{
  "url": "https://dantelabs.com/hu/genes/slc22a5",
  "gene": {
    "slug": "slc22a5",
    "symbol": "SLC22A5",
    "name": "solute carrier family 22 member 5",
    "hgnc": "HGNC:10969",
    "summary": null,
    "location": "5q31.1",
    "locusType": "gene with protein product",
    "aliases": [
      "OCTN2",
      "SCD"
    ],
    "previousSymbols": [
      "CDSP"
    ],
    "ensemblId": "ENSG00000197375",
    "entrezId": 6584,
    "omim": [
      "603377"
    ],
    "uniprot": [
      "O76082"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "5",
      "start": 132369710,
      "end": 132395612,
      "strand": "+",
      "ensemblTranscript": "ENST00000245407.8",
      "refseqTranscript": "NM_003060.4",
      "ensemblProtein": "ENSP00000245407.3",
      "refseqProtein": "NP_003051.1",
      "exons": [
        {
          "start": 132369710,
          "end": 132370365
        },
        {
          "start": 132378378,
          "end": 132378481
        },
        {
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          "end": 132384301
        },
        {
          "start": 132385328,
          "end": 132385499
        },
        {
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          "end": 132387151
        },
        {
          "start": 132388921,
          "end": 132389021
        },
        {
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        },
        {
          "start": 132392433,
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        },
        {
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        },
        {
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          "end": 132395612
        }
      ],
      "cds": {
        "start": 132369973,
        "end": 132394272
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "5",
      "start": 131705444,
      "end": 131731306,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 131882661,
      "end": 132882660,
      "genes": [
        {
          "symbol": "MEIKIN",
          "ensemblId": "ENSG00000239642",
          "biotype": "protein_coding",
          "start": 131806990,
          "end": 131945698,
          "strand": "-",
          "slug": "meikin"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000281938",
          "biotype": "protein_coding",
          "start": 131807143,
          "end": 132011637,
          "strand": "-"
        },
        {
          "symbol": "ACSL6",
          "ensemblId": "ENSG00000164398",
          "biotype": "protein_coding",
          "start": 131949973,
          "end": 132012243,
          "strand": "-",
          "slug": "acsl6"
        },
        {
          "symbol": "IL3",
          "ensemblId": "ENSG00000164399",
          "biotype": "protein_coding",
          "start": 132060655,
          "end": 132063204,
          "strand": "+",
          "slug": "il3"
        },
        {
          "symbol": "CSF2",
          "ensemblId": "ENSG00000164400",
          "biotype": "protein_coding",
          "start": 132073784,
          "end": 132076170,
          "strand": "+",
          "slug": "csf2"
        },
        {
          "symbol": "P4HA2",
          "ensemblId": "ENSG00000072682",
          "biotype": "protein_coding",
          "start": 132190094,
          "end": 132295315,
          "strand": "-",
          "slug": "p4ha2"
        },
        {
          "symbol": "PDLIM4",
          "ensemblId": "ENSG00000131435",
          "biotype": "protein_coding",
          "start": 132257640,
          "end": 132273712,
          "strand": "+",
          "slug": "pdlim4"
        },
        {
          "symbol": "SLC22A4",
          "ensemblId": "ENSG00000197208",
          "biotype": "protein_coding",
          "start": 132293737,
          "end": 132344206,
          "strand": "+",
          "slug": "slc22a4"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000283782",
          "biotype": "protein_coding",
          "start": 132410832,
          "end": 132646079,
          "strand": "+"
        },
        {
          "symbol": "IRF1",
          "ensemblId": "ENSG00000125347",
          "biotype": "protein_coding",
          "start": 132440440,
          "end": 132508719,
          "strand": "-",
          "slug": "irf1"
        },
        {
          "symbol": "IL5",
          "ensemblId": "ENSG00000113525",
          "biotype": "protein_coding",
          "start": 132541444,
          "end": 132556838,
          "strand": "-",
          "slug": "il5"
        },
        {
          "symbol": "RAD50",
          "ensemblId": "ENSG00000113522",
          "biotype": "protein_coding",
          "start": 132556019,
          "end": 132646349,
          "strand": "+",
          "slug": "rad50"
        },
        {
          "symbol": "IL13",
          "ensemblId": "ENSG00000169194",
          "biotype": "protein_coding",
          "start": 132656263,
          "end": 132661110,
          "strand": "+",
          "slug": "il13"
        },
        {
          "symbol": "IL4",
          "ensemblId": "ENSG00000113520",
          "biotype": "protein_coding",
          "start": 132673986,
          "end": 132682678,
          "strand": "+",
          "slug": "il4"
        },
        {
          "symbol": "KIF3A",
          "ensemblId": "ENSG00000131437",
          "biotype": "protein_coding",
          "start": 132688806,
          "end": 132737638,
          "strand": "-",
          "slug": "kif3a"
        },
        {
          "symbol": "CCNI2",
          "ensemblId": "ENSG00000205089",
          "biotype": "protein_coding",
          "start": 132747319,
          "end": 132765178,
          "strand": "+",
          "slug": "ccni2"
        },
        {
          "symbol": "SEPTIN8",
          "ensemblId": "ENSG00000164402",
          "biotype": "protein_coding",
          "start": 132750138,
          "end": 132807241,
          "strand": "-",
          "slug": "septin8"
        },
        {
          "symbol": "SOWAHA",
          "ensemblId": "ENSG00000198944",
          "biotype": "protein_coding",
          "start": 132813302,
          "end": 132816786,
          "strand": "+",
          "slug": "sowaha"
        },
        {
          "symbol": "SHROOM1",
          "ensemblId": "ENSG00000164403",
          "biotype": "protein_coding",
          "start": 132821271,
          "end": 132830924,
          "strand": "-",
          "slug": "shroom1"
        },
        {
          "symbol": "GDF9",
          "ensemblId": "ENSG00000164404",
          "biotype": "protein_coding",
          "start": 132861181,
          "end": 132866884,
          "strand": "-",
          "slug": "gdf9"
        },
        {
          "symbol": "UQCRQ",
          "ensemblId": "ENSG00000164405",
          "biotype": "protein_coding",
          "start": 132866623,
          "end": 132868847,
          "strand": "+",
          "slug": "uqcrq"
        },
        {
          "symbol": "LEAP2",
          "ensemblId": "ENSG00000164406",
          "biotype": "protein_coding",
          "start": 132873444,
          "end": 132899343,
          "strand": "+",
          "slug": "leap2"
        },
        {
          "symbol": "AFF4",
          "ensemblId": "ENSG00000072364",
          "biotype": "protein_coding",
          "start": 132875395,
          "end": 132963931,
          "strand": "-",
          "slug": "aff4"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "fatty-acid-oxidation-and-carnitine-cycle-disorders",
        "name": "Fatty Acid Oxidation & Carnitine Cycle Disorders",
        "diseases": [
          {
            "mondoId": "MONDO:0017713",
            "name": "Disorders of Fatty Acid Oxidation and Ketogenesis",
            "genes": 13,
            "inheritance": "autosomal-recessive",
            "description": "A group of enzyme and transporter defects, including MCAD, VLCAD, LCHAD, SCAD and HADH deficiency, primary carnitine deficiency and carnitine-acylcarnitine translocase deficiency, that can cause low blood sugar, muscle breakdown, heart and liver problems during periods of fasting or illness.",
            "management": "Knowing allows avoidance of prolonged fasting, an emergency plan for illness and, where relevant, carnitine or dietary fat modification, which can prevent life-threatening episodes.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Myriad Women's Health",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ],
              "actionability": 10
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/fatty-acid-oxidation-and-carnitine-cycle-disorders"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "acute-encephalopathy",
        "name": "Acute encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/acute-encephalopathy"
      },
      {
        "slug": "bilateral-tonic-clonic-seizure-with-focal-onset",
        "name": "Bilateral tonic-clonic seizure with focal onset",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure-with-focal-onset"
      },
      {
        "slug": "respiratory-distress",
        "name": "Breathing difficulties",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/respiratory-distress"
      },
      {
        "slug": "congestive-heart-failure",
        "name": "Cardiac failure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/congestive-heart-failure"
      },
      {
        "slug": "decreased-circulating-carnitine-concentration",
        "name": "Carnitine deficiency",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-carnitine-concentration"
      },
      {
        "slug": "clumsiness",
        "name": "Clumsiness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/clumsiness"
      },
      {
        "slug": "coma",
        "name": "Coma",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/coma"
      },
      {
        "slug": "confusion",
        "name": "Confusion",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/confusion"
      },
      {
        "slug": "decreased-carnitine-level-in-liver",
        "name": "Decreased carnitine level in liver",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-carnitine-level-in-liver"
      },
      {
        "slug": "dehydration",
        "name": "Dehydration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dehydration"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "cardiomyopathy",
        "name": "Disease of the heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cardiomyopathy"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "elevated-circulating-alanine-aminotransferase-concentration",
        "name": "Elevated circulating alanine aminotransferase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elevated-circulating-alanine-aminotransferase-concentration"
      },
      {
        "slug": "elevated-circulating-aspartate-aminotransferase-concentration",
        "name": "Elevated circulating aspartate aminotransferase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elevated-circulating-aspartate-aminotransferase-concentration"
      },
      {
        "slug": "elevated-urinary-dicarboxylic-acid-level",
        "name": "Elevated urinary dicarboxylic acid level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elevated-urinary-dicarboxylic-acid-level"
      },
      {
        "slug": "encephalopathy",
        "name": "Encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/encephalopathy"
      },
      {
        "slug": "endocardial-fibroelastosis",
        "name": "Endocardial fibroelastosis",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/endocardial-fibroelastosis"
      },
      {
        "slug": "hypertrophic-cardiomyopathy",
        "name": "Enlarged and thickened heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy"
      },
      {
        "slug": "cardiomegaly",
        "name": "Enlarged heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/cardiomegaly"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "excessive-daytime-somnolence",
        "name": "Excessive daytime sleepiness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/excessive-daytime-somnolence"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "hyperammonemia",
        "name": "High blood ammonia levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hyperammonemia"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "impaired-gluconeogenesis",
        "name": "Impaired gluconeogenesis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/impaired-gluconeogenesis"
      },
      {
        "slug": "lethargy",
        "name": "Lethargy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/lethargy"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "microvesicular-hepatic-steatosis",
        "name": "Microvesicular hepatic steatosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microvesicular-hepatic-steatosis"
      },
      {
        "slug": "mitral-regurgitation",
        "name": "Mitral regurgitation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mitral-regurgitation"
      },
      {
        "slug": "myopathy",
        "name": "Muscle tissue disease",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/myopathy"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "neck-muscle-weakness",
        "name": "Neck muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/neck-muscle-weakness"
      },
      {
        "slug": "proximal-muscle-weakness",
        "name": "Proximal neurogenic muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/proximal-muscle-weakness"
      },
      {
        "slug": "recurrent-hypoglycemia",
        "name": "Recurrent low blood sugar levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-hypoglycemia"
      },
      {
        "slug": "reduced-muscle-carnitine-level",
        "name": "Reduced muscle carnitine level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/reduced-muscle-carnitine-level"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/vomiting"
      }
    ],
    "related": [
      {
        "slug": "acad9",
        "symbol": "ACAD9",
        "name": "acyl-CoA dehydrogenase family member 9",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/acad9"
      },
      {
        "slug": "acadm",
        "symbol": "ACADM",
        "name": "acyl-CoA dehydrogenase medium chain",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/acadm"
      },
      {
        "slug": "acads",
        "symbol": "ACADS",
        "name": "acyl-CoA dehydrogenase short chain",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/acads"
      },
      {
        "slug": "acadvl",
        "symbol": "ACADVL",
        "name": "acyl-CoA dehydrogenase very long chain",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/acadvl"
      },
      {
        "slug": "etfa",
        "symbol": "ETFA",
        "name": "electron transfer flavoprotein subunit alpha",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/etfa"
      },
      {
        "slug": "etfb",
        "symbol": "ETFB",
        "name": "electron transfer flavoprotein subunit beta",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/etfb"
      },
      {
        "slug": "etfdh",
        "symbol": "ETFDH",
        "name": "electron transfer flavoprotein dehydrogenase",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/etfdh"
      },
      {
        "slug": "hadh",
        "symbol": "HADH",
        "name": "hydroxyacyl-CoA dehydrogenase",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/hadh"
      },
      {
        "slug": "hadha",
        "symbol": "HADHA",
        "name": "hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/hadha"
      },
      {
        "slug": "hmgcl",
        "symbol": "HMGCL",
        "name": "3-hydroxy-3-methylglutaryl-CoA lyase",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/hmgcl"
      },
      {
        "slug": "hmgcs2",
        "symbol": "HMGCS2",
        "name": "3-hydroxy-3-methylglutaryl-CoA synthase 2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/hmgcs2"
      },
      {
        "slug": "slc25a20",
        "symbol": "SLC25A20",
        "name": "solute carrier family 25 member 20",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/slc25a20"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}