{
  "url": "https://dantelabs.com/fr/genes/sucla2",
  "gene": {
    "slug": "sucla2",
    "symbol": "SUCLA2",
    "name": "succinate-CoA ligase ADP-forming subunit beta",
    "hgnc": "HGNC:11448",
    "summary": null,
    "location": "13q14.2",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [
      "LINC00444"
    ],
    "ensemblId": "ENSG00000136143",
    "entrezId": 8803,
    "omim": [
      "603921"
    ],
    "uniprot": [
      "Q9P2R7"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "13",
      "start": 47942656,
      "end": 48001273,
      "strand": "-",
      "ensemblTranscript": "ENST00000646932.1",
      "refseqTranscript": "NM_003850.3",
      "ensemblProtein": "ENSP00000494360.1",
      "refseqProtein": "NP_003841.1",
      "exons": [
        {
          "start": 47942656,
          "end": 47943445
        },
        {
          "start": 47948940,
          "end": 47949028
        },
        {
          "start": 47949483,
          "end": 47949603
        },
        {
          "start": 47954140,
          "end": 47954282
        },
        {
          "start": 47954396,
          "end": 47954557
        },
        {
          "start": 47968595,
          "end": 47968733
        },
        {
          "start": 47973264,
          "end": 47973392
        },
        {
          "start": 47988541,
          "end": 47988703
        },
        {
          "start": 47988882,
          "end": 47988981
        },
        {
          "start": 47996843,
          "end": 47997023
        },
        {
          "start": 48001180,
          "end": 48001273
        }
      ],
      "cds": {
        "start": 47943371,
        "end": 48001269
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "13",
      "start": 48510622,
      "end": 48612125,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 47471965,
      "end": 48471964,
      "genes": [
        {
          "symbol": "MED4",
          "ensemblId": "ENSG00000136146",
          "biotype": "protein_coding",
          "start": 48001823,
          "end": 48095150,
          "strand": "-",
          "slug": "med4"
        },
        {
          "symbol": "NUDT15",
          "ensemblId": "ENSG00000136159",
          "biotype": "protein_coding",
          "start": 48037514,
          "end": 48054196,
          "strand": "+",
          "slug": "nudt15"
        },
        {
          "symbol": "ITM2B",
          "ensemblId": "ENSG00000136156",
          "biotype": "protein_coding",
          "start": 48232612,
          "end": 48270357,
          "strand": "+",
          "slug": "itm2b"
        },
        {
          "symbol": "RB1",
          "ensemblId": "ENSG00000139687",
          "biotype": "protein_coding",
          "start": 48303710,
          "end": 48599436,
          "strand": "+",
          "slug": "rb1"
        },
        {
          "symbol": "LPAR6",
          "ensemblId": "ENSG00000139679",
          "biotype": "protein_coding",
          "start": 48327364,
          "end": 48444704,
          "strand": "-",
          "slug": "lpar6"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "primary-mitochondrial-disease",
        "name": "Maladie mitochondriale primaire",
        "diseases": [
          {
            "mondoId": "MONDO:0018158",
            "name": "Syndrome de déplétion de l'ADN mitochondrial",
            "genes": 20,
            "inheritance": null,
            "description": "Causé par des variants de gènes nucléaires tels que POLG, TWNK, TK2, DGUOK, MPV17, RRM2B et SUCLA2, qui réduisent la quantité d'ADN mitochondrial et peuvent provoquer une maladie musculaire, hépatique ou cérébrale.",
            "management": "Ce résultat a des implications concrètes : le valproate doit être évité en cas de maladie liée à POLG en raison du risque d'insuffisance hépatique fatale, et le déficit en TK2 dispose d'un traitement par nucléosides.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/primary-mitochondrial-disease"
      },
      {
        "slug": "leigh-syndrome",
        "name": "Syndrome de Leigh",
        "diseases": [
          {
            "mondoId": "MONDO:0009723",
            "name": "Syndrome de Leigh",
            "genes": 69,
            "inheritance": null,
            "description": "Une maladie neurologique évolutive caractérisée par des anomalies neuropathologiques spécifiques associant des lésions du tronc cérébral et des ganglions de la base.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/leigh-syndrome"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-basal-ganglia-morphology",
        "name": "Abnormal basal ganglia morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-basal-ganglia-morphology"
      },
      {
        "slug": "cerebral-calcification",
        "name": "Abnormal deposits of calcium in the brain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cerebral-calcification"
      },
      {
        "slug": "abnormal-electroretinogram",
        "name": "Abnormal electroretinogram",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-electroretinogram"
      },
      {
        "slug": "aminoaciduria",
        "name": "Abnormal urinary amino-acid findings",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aminoaciduria"
      },
      {
        "slug": "abnormality-of-visual-evoked-potentials",
        "name": "Abnormality of visual evoked potentials",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-visual-evoked-potentials"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "gastroesophageal-reflux",
        "name": "Acid reflux",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gastroesophageal-reflux"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "atypical-behavior",
        "name": "Behavioral abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/atypical-behavior"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "decreased-activity-of-mitochondrial-respiratory-chain",
        "name": "Decreased activity of mitochondrial respiratory chain",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-respiratory-chain"
      },
      {
        "slug": "respiratory-insufficiency-due-to-muscle-weakness",
        "name": "Decreased lung function due to weak breathing muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/respiratory-insufficiency-due-to-muscle-weakness"
      },
      {
        "slug": "decreased-nerve-conduction-velocity",
        "name": "Decreased nerve conduction velocity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-nerve-conduction-velocity"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "delayed-gross-motor-development",
        "name": "Delayed motor skills",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/delayed-gross-motor-development"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "generalized-hirsutism",
        "name": "Excessive hairiness over body",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/generalized-hirsutism"
      },
      {
        "slug": "hyperhidrosis",
        "name": "Excessive sweating",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperhidrosis"
      },
      {
        "slug": "ophthalmoplegia",
        "name": "Eye muscle paralysis",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/ophthalmoplegia"
      },
      {
        "slug": "facial-diplegia",
        "name": "Facial diplegia",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/facial-diplegia"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "feeding-difficulties-in-infancy",
        "name": "Feeding difficulties in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy"
      },
      {
        "slug": "global-brain-atrophy",
        "name": "Generalized brain degeneration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/global-brain-atrophy"
      },
      {
        "slug": "generalized-onset-seizure",
        "name": "Generalized-onset seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/generalized-onset-seizure"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "increased-circulating-lactate-concentration",
        "name": "Higher than normal levels of lactate in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration"
      },
      {
        "slug": "hyperkinetic-movements",
        "name": "Hyperactive movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperkinetic-movements"
      },
      {
        "slug": "inability-to-walk",
        "name": "Inability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/inability-to-walk"
      },
      {
        "slug": "increased-csf-lactate",
        "name": "Increased CSF lactate",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-csf-lactate"
      },
      {
        "slug": "lactic-acidosis",
        "name": "Increased lactate in body",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/lactic-acidosis"
      },
      {
        "slug": "infantile-spasms",
        "name": "Infantile spasms",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/infantile-spasms"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "athetosis",
        "name": "Involuntary writhing movements in fingers, hands, toes, and feet",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/athetosis"
      },
      {
        "slug": "irritability",
        "name": "Irritability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/irritability"
      },
      {
        "slug": "loss-of-ability-to-walk-in-early-childhood",
        "name": "Loss of ability to walk in early childhood",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/loss-of-ability-to-walk-in-early-childhood"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "methylmalonic-acidemia",
        "name": "Methylmalonic acidemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/methylmalonic-acidemia"
      },
      {
        "slug": "methylmalonic-aciduria",
        "name": "Methylmalonic aciduria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/methylmalonic-aciduria"
      },
      {
        "slug": "microcytic-anemia",
        "name": "Microcytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/microcytic-anemia"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "peripheral-neuropathy",
        "name": "Peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/peripheral-neuropathy"
      },
      {
        "slug": "progressive-encephalopathy",
        "name": "Progressive brain disease",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/progressive-encephalopathy"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "severe-global-developmental-delay",
        "name": "Severe global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/severe-global-developmental-delay"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "small-for-gestational-age",
        "name": "Small for gestational age",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/small-for-gestational-age"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/visual-impairment"
      },
      {
        "slug": "cachexia",
        "name": "Wasting syndrome",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cachexia"
      }
    ],
    "related": [
      {
        "slug": "fbxl4",
        "symbol": "FBXL4",
        "name": "F-box and leucine rich repeat protein 4",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/fbxl4"
      },
      {
        "slug": "opa1",
        "symbol": "OPA1",
        "name": "OPA1 mitochondrial dynamin like GTPase",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/opa1"
      },
      {
        "slug": "suclg1",
        "symbol": "SUCLG1",
        "name": "succinate-CoA ligase GDP/ADP-forming subunit alpha",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/suclg1"
      },
      {
        "slug": "afg3l2",
        "symbol": "AFG3L2",
        "name": "AFG3 like matrix AAA peptidase subunit 2",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/afg3l2"
      },
      {
        "slug": "agk",
        "symbol": "AGK",
        "name": "acylglycerol kinase",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/agk"
      },
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/aifm1"
      },
      {
        "slug": "atp5mk",
        "symbol": "ATP5MK",
        "name": "ATP synthase membrane subunit k",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/atp5mk"
      },
      {
        "slug": "btd",
        "symbol": "BTD",
        "name": "biotinidase",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/btd"
      },
      {
        "slug": "cox10",
        "symbol": "COX10",
        "name": "cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/cox10"
      },
      {
        "slug": "dguok",
        "symbol": "DGUOK",
        "name": "deoxyguanosine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/dguok"
      },
      {
        "slug": "dlat",
        "symbol": "DLAT",
        "name": "dihydrolipoamide S-acetyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/dlat"
      },
      {
        "slug": "dld",
        "symbol": "DLD",
        "name": "dihydrolipoamide dehydrogenase",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/dld"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}