{
  "url": "https://dantelabs.com/ko/genes/aldh5a1",
  "gene": {
    "slug": "aldh5a1",
    "symbol": "ALDH5A1",
    "name": "aldehyde dehydrogenase 5 family member A1",
    "hgnc": "HGNC:408",
    "summary": null,
    "location": "6p22.3",
    "locusType": "gene with protein product",
    "aliases": [
      "SSADH",
      "SSDH"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000112294",
    "entrezId": 7915,
    "omim": [
      "610045"
    ],
    "uniprot": [
      "P51649"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "6",
      "start": 24494969,
      "end": 24537207,
      "strand": "+",
      "ensemblTranscript": "ENST00000357578.8",
      "refseqTranscript": "NM_001080.3",
      "ensemblProtein": "ENSP00000350191.3",
      "refseqProtein": "NP_001071.1",
      "exons": [
        {
          "start": 24494969,
          "end": 24495350
        },
        {
          "start": 24502523,
          "end": 24502606
        },
        {
          "start": 24503263,
          "end": 24503433
        },
        {
          "start": 24504869,
          "end": 24504985
        },
        {
          "start": 24515167,
          "end": 24515310
        },
        {
          "start": 24520401,
          "end": 24520544
        },
        {
          "start": 24522767,
          "end": 24522925
        },
        {
          "start": 24527997,
          "end": 24528166
        },
        {
          "start": 24532119,
          "end": 24532177
        },
        {
          "start": 24533507,
          "end": 24537207
        }
      ],
      "cds": {
        "start": 24494997,
        "end": 24533712
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "6",
      "start": 24495080,
      "end": 24537435,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 24016088,
      "end": 25016087,
      "genes": [
        {
          "symbol": "NRSN1",
          "ensemblId": "ENSG00000152954",
          "biotype": "protein_coding",
          "start": 24126154,
          "end": 24154900,
          "strand": "+",
          "slug": "nrsn1"
        },
        {
          "symbol": "DCDC2",
          "ensemblId": "ENSG00000146038",
          "biotype": "protein_coding",
          "start": 24171747,
          "end": 24383300,
          "strand": "-",
          "slug": "dcdc2"
        },
        {
          "symbol": "MRS2",
          "ensemblId": "ENSG00000124532",
          "biotype": "protein_coding",
          "start": 24402796,
          "end": 24431065,
          "strand": "+",
          "slug": "mrs2"
        },
        {
          "symbol": "GPLD1",
          "ensemblId": "ENSG00000112293",
          "biotype": "protein_coding",
          "start": 24418076,
          "end": 24495205,
          "strand": "-",
          "slug": "gpld1"
        },
        {
          "symbol": "KIAA0319",
          "ensemblId": "ENSG00000137261",
          "biotype": "protein_coding",
          "start": 24544104,
          "end": 24646197,
          "strand": "-",
          "slug": "kiaa0319"
        },
        {
          "symbol": "TDP2",
          "ensemblId": "ENSG00000111802",
          "biotype": "protein_coding",
          "start": 24649917,
          "end": 24667052,
          "strand": "-",
          "slug": "tdp2"
        },
        {
          "symbol": "ACOT13",
          "ensemblId": "ENSG00000112304",
          "biotype": "protein_coding",
          "start": 24666901,
          "end": 24714084,
          "strand": "+",
          "slug": "acot13"
        },
        {
          "symbol": "C6orf62",
          "ensemblId": "ENSG00000112308",
          "biotype": "protein_coding",
          "start": 24704105,
          "end": 24720900,
          "strand": "-",
          "slug": "c6orf62"
        },
        {
          "symbol": "GMNN",
          "ensemblId": "ENSG00000112312",
          "biotype": "protein_coding",
          "start": 24774892,
          "end": 24788205,
          "strand": "+",
          "slug": "gmnn"
        },
        {
          "symbol": "ARMH2",
          "ensemblId": "ENSG00000260286",
          "biotype": "protein_coding",
          "start": 24797323,
          "end": 24798917,
          "strand": "-",
          "slug": "armh2"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000282804",
          "biotype": "protein_coding",
          "start": 24797373,
          "end": 24809798,
          "strand": "-"
        },
        {
          "symbol": "RIPOR2",
          "ensemblId": "ENSG00000111913",
          "biotype": "protein_coding",
          "start": 24803362,
          "end": 25042170,
          "strand": "-",
          "slug": "ripor2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "succinic-semialdehyde-dehydrogenase-deficiency",
        "name": "숙신산 세미알데하이드 탈수소효소 결핍증",
        "diseases": [
          {
            "mondoId": "MONDO:0010083",
            "name": "숙신산 세미알데하이드 탈수소효소 결핍증",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "GABA 대사에서 숙신산 세미알데하이드를 분해하는 효소를 암호화하는 ALDH5A1의 두 복제본 모두에 변이가 있을 때 발생합니다. GABA와 감마하이드록시뷰티르산(GHB)이 축적되며, 소변에서 GHB 수치가 높게 나타나는 것이 주요 검사 소견입니다.",
            "management": "치료는 증상에 따라 이루어지며, 발달 및 행동 지원과 발작 치료가 포함됩니다. 발프로산은 일반적으로 피합니다. 가족의 보인자 검사와 유전 상담을 받으실 수 있습니다.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/ko/conditions/succinic-semialdehyde-dehydrogenase-deficiency"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormality-of-eye-movement",
        "name": "Abnormality of eye movement",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/abnormality-of-eye-movement"
      },
      {
        "slug": "aggressive-behavior",
        "name": "Aggressive behavior",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/aggressive-behavior"
      },
      {
        "slug": "anxiety",
        "name": "Anxiety",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/anxiety"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "autism",
        "name": "Autism",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/autism"
      },
      {
        "slug": "atypical-behavior",
        "name": "Behavioral abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atypical-behavior"
      },
      {
        "slug": "generalized-non-motor-absence-seizure",
        "name": "Brief seizures with staring spells",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-non-motor-absence-seizure"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "slug": "decreased-tissue-succinic-semialdehyde-dehydrogenase-activity",
        "name": "Decreased tissue succinic semialdehyde dehydrogenase activity",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/decreased-tissue-succinic-semialdehyde-dehydrogenase-activity"
      },
      {
        "slug": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebellar-atrophy"
      },
      {
        "slug": "delayed-cns-myelination",
        "name": "Delayed CNS myelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-cns-myelination"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "eeg-abnormality",
        "name": "EEG abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/eeg-abnormality"
      },
      {
        "slug": "elevated-circulating-4-hydroxybutyric-acid-concentration",
        "name": "Elevated circulating 4-hydroxybutyric acid concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/elevated-circulating-4-hydroxybutyric-acid-concentration"
      },
      {
        "slug": "elevated-circulating-gaba-concentration",
        "name": "Elevated circulating GABA concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/elevated-circulating-gaba-concentration"
      },
      {
        "slug": "elevated-csf-4-hydroxybutyric-acid-concentration",
        "name": "Elevated CSF 4-hydroxybutyric acid concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/elevated-csf-4-hydroxybutyric-acid-concentration"
      },
      {
        "slug": "elevated-csf-gamma-aminobutyric-acid-concentration",
        "name": "Elevated CSF gamma-aminobutyric acid concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/elevated-csf-gamma-aminobutyric-acid-concentration"
      },
      {
        "slug": "elevated-urinary-3-4-dihydroxybutyric-acid-level",
        "name": "Elevated urinary 3,4-Dihydroxybutyric acid level",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/elevated-urinary-3-4-dihydroxybutyric-acid-level"
      },
      {
        "slug": "elevated-urinary-4-hydroxybutyric-acid",
        "name": "Elevated urinary 4-hydroxybutyric acid",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/elevated-urinary-4-hydroxybutyric-acid"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "generalized-myoclonic-seizure",
        "name": "Generalized myoclonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-myoclonic-seizure"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "bilateral-tonic-clonic-seizure",
        "name": "Grand mal seizures",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure"
      },
      {
        "slug": "hallucinations",
        "name": "Hallucinations",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hallucinations"
      },
      {
        "slug": "hyperkinetic-movements",
        "name": "Hyperactive movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hyperkinetic-movements"
      },
      {
        "slug": "increased-level-of-gamma-aminobutyric-acid-in-urine",
        "name": "Increased level of gamma-aminobutyric acid in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/increased-level-of-gamma-aminobutyric-acid-in-urine"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "abnormality-of-metabolism-homeostasis",
        "name": "Laboratory abnormality",
        "systems": [],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-metabolism-homeostasis"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "hyperactivity",
        "name": "More active than typical",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hyperactivity"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "psychosis",
        "name": "Psychosis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/psychosis"
      },
      {
        "slug": "status-epilepticus",
        "name": "Repeated seizures without recovery between them",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/status-epilepticus"
      },
      {
        "slug": "self-injurious-behavior",
        "name": "Self-injurious behavior",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/self-injurious-behavior"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}