{
  "url": "https://dantelabs.com/ko/genes/slc25a15",
  "gene": {
    "slug": "slc25a15",
    "symbol": "SLC25A15",
    "name": "solute carrier family 25 member 15",
    "hgnc": "HGNC:10985",
    "summary": null,
    "location": "13q14.11",
    "locusType": "gene with protein product",
    "aliases": [
      "ORC1",
      "lnc-HC",
      "D13S327"
    ],
    "previousSymbols": [
      "ORNT1",
      "HHH"
    ],
    "ensemblId": "ENSG00000102743",
    "entrezId": 10166,
    "omim": [
      "603861"
    ],
    "uniprot": [
      "Q9Y619"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "13",
      "start": 40789611,
      "end": 40812460,
      "strand": "+",
      "ensemblTranscript": "ENST00000338625.9",
      "refseqTranscript": "NM_014252.4",
      "ensemblProtein": "ENSP00000342267.4",
      "refseqProtein": "NP_055067.1",
      "exons": [
        {
          "start": 40789611,
          "end": 40789663
        },
        {
          "start": 40793158,
          "end": 40793281
        },
        {
          "start": 40799057,
          "end": 40799315
        },
        {
          "start": 40805118,
          "end": 40805255
        },
        {
          "start": 40807294,
          "end": 40807463
        },
        {
          "start": 40808438,
          "end": 40808596
        },
        {
          "start": 40809543,
          "end": 40812460
        }
      ],
      "cds": {
        "start": 40793227,
        "end": 40809667
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "13",
      "start": 41363548,
      "end": 41384247,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 40301036,
      "end": 41301035,
      "genes": [
        {
          "symbol": "FOXO1",
          "ensemblId": "ENSG00000150907",
          "biotype": "protein_coding",
          "start": 40555667,
          "end": 40667612,
          "strand": "-",
          "slug": "foxo1"
        },
        {
          "symbol": "MRPS31",
          "ensemblId": "ENSG00000102738",
          "biotype": "protein_coding",
          "start": 40727694,
          "end": 40771351,
          "strand": "-",
          "slug": "mrps31"
        },
        {
          "symbol": "ELF1",
          "ensemblId": "ENSG00000120690",
          "biotype": "protein_coding",
          "start": 40931241,
          "end": 41061692,
          "strand": "-",
          "slug": "elf1"
        },
        {
          "symbol": "WBP4",
          "ensemblId": "ENSG00000120688",
          "biotype": "protein_coding",
          "start": 41060607,
          "end": 41084012,
          "strand": "+",
          "slug": "wbp4"
        },
        {
          "symbol": "KBTBD6",
          "ensemblId": "ENSG00000165572",
          "biotype": "protein_coding",
          "start": 41127569,
          "end": 41132802,
          "strand": "-",
          "slug": "kbtbd6"
        },
        {
          "symbol": "KBTBD7",
          "ensemblId": "ENSG00000120696",
          "biotype": "protein_coding",
          "start": 41189834,
          "end": 41194569,
          "strand": "-",
          "slug": "kbtbd7"
        },
        {
          "symbol": "MTRF1",
          "ensemblId": "ENSG00000120662",
          "biotype": "protein_coding",
          "start": 41216145,
          "end": 41311831,
          "strand": "-",
          "slug": "mtrf1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "urea-cycle-disorder",
        "name": "요소 회로 장애",
        "diseases": [
          {
            "mondoId": "MONDO:0004739",
            "name": "요소 회로 장애",
            "genes": 11,
            "inheritance": null,
            "description": "요소 회로에 필요한 효소 중 하나가 결핍되어 체내에 암모니아가 축적되는 것이 특징인 유전성 선천성 대사 이상입니다.",
            "management": "질소 제거 요법(벤조산나트륨, 글리세롤 페닐부티레이트/Ravicti), 필수 아미노산 보충을 병행한 단백질 제한 식이, 응급 고암모니아혈증 대응 프로토콜, 간 이식(근치적 치료), OTC에 대한 mRNA 치료 임상시험, NAGS 결핍에 대한 카글루탐산",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ],
              "actionability": 9
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/ko/conditions/urea-cycle-disorder"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-circulating-citrulline-concentration",
        "name": "Abnormal circulating citrulline concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-citrulline-concentration"
      },
      {
        "slug": "abnormal-pyramidal-sign",
        "name": "Abnormal pyramidal sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormal-pyramidal-sign"
      },
      {
        "slug": "abnormality-of-the-coagulation-cascade",
        "name": "Abnormality of the coagulation cascade",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-coagulation-cascade"
      },
      {
        "slug": "acute-encephalopathy",
        "name": "Acute encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/acute-encephalopathy"
      },
      {
        "slug": "acute-hepatitis",
        "name": "Acute liver inflammation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/acute-hepatitis"
      },
      {
        "slug": "chorioretinal-atrophy",
        "name": "Chorioretinal atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/chorioretinal-atrophy"
      },
      {
        "slug": "chorioretinal-hypopigmentation",
        "name": "Chorioretinal hypopigmentation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/chorioretinal-hypopigmentation"
      },
      {
        "slug": "clonus",
        "name": "Clonus",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/clonus"
      },
      {
        "slug": "cognitive-impairment",
        "name": "Cognitive impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cognitive-impairment"
      },
      {
        "slug": "coma",
        "name": "Coma",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/coma"
      },
      {
        "slug": "confusion",
        "name": "Confusion",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/confusion"
      },
      {
        "slug": "cerebral-cortical-atrophy",
        "name": "Decrease in size of the outer layer of the brain due to loss of brain cells",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebral-cortical-atrophy"
      },
      {
        "slug": "decreased-liver-function",
        "name": "Decreased liver function",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-liver-function"
      },
      {
        "slug": "decreased-nerve-conduction-velocity",
        "name": "Decreased nerve conduction velocity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-nerve-conduction-velocity"
      },
      {
        "slug": "dysdiadochokinesis",
        "name": "Difficulty performing quick and alternating movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysdiadochokinesis"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "episodic-vomiting",
        "name": "Episodic vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/episodic-vomiting"
      },
      {
        "slug": "scanning-speech",
        "name": "Explosive speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/scanning-speech"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "fundus-hypopigmentation",
        "name": "Fundus hypopigmentation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/fundus-hypopigmentation"
      },
      {
        "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": "occasional",
        "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": "hyperammonemia",
        "name": "High blood ammonia levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperammonemia"
      },
      {
        "slug": "hyperornithinemia",
        "name": "High blood ornithine levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperornithinemia"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "oroticaciduria",
        "name": "High urine orotic acid levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/oroticaciduria"
      },
      {
        "slug": "homocitrullinuria",
        "name": "Homocitrullinuria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/homocitrullinuria"
      },
      {
        "slug": "impaired-vibratory-sensation",
        "name": "Impaired vibratory sensation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/impaired-vibratory-sensation"
      },
      {
        "slug": "incoordination",
        "name": "Incoordination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/incoordination"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "tachypnea",
        "name": "Increased respiratory rate or depth of breathing",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tachypnea"
      },
      {
        "slug": "truncal-ataxia",
        "name": "Instability or lack of coordination of central trunk muscles",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/truncal-ataxia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "severe-intellectual-disability",
        "name": "Intellectual disability, severe",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/severe-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": "dysmetria",
        "name": "Lack of coordination of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysmetria"
      },
      {
        "slug": "lethargy",
        "name": "Lethargy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lethargy"
      },
      {
        "slug": "hepatic-failure",
        "name": "Liver failure",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hepatic-failure"
      },
      {
        "slug": "hepatitis",
        "name": "Liver inflammation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatitis"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "multifocal-cerebral-white-matter-abnormalities",
        "name": "Multifocal cerebral white matter abnormalities",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/multifocal-cerebral-white-matter-abnormalities"
      },
      {
        "slug": "neurodevelopmental-delay",
        "name": "Neurodevelopmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/neurodevelopmental-delay"
      },
      {
        "slug": "progressive-cerebellar-ataxia",
        "name": "Progressive cerebellar ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/progressive-cerebellar-ataxia"
      },
      {
        "slug": "protein-avoidance",
        "name": "Protein avoidance",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/protein-avoidance"
      },
      {
        "slug": "respiratory-alkalosis",
        "name": "Respiratory alkalosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/respiratory-alkalosis"
      },
      {
        "slug": "spastic-diplegia",
        "name": "Spastic diplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spastic-diplegia"
      },
      {
        "slug": "spastic-paraparesis",
        "name": "Spastic paraparesis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/spastic-paraparesis"
      },
      {
        "slug": "spastic-paraplegia",
        "name": "Spastic paraplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/spastic-paraplegia"
      },
      {
        "slug": "spastic-gait",
        "name": "Spastic walk",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spastic-gait"
      },
      {
        "slug": "specific-learning-disability",
        "name": "Specific learning disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/specific-learning-disability"
      },
      {
        "slug": "speech-apraxia",
        "name": "Speech apraxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/speech-apraxia"
      }
    ],
    "related": [
      {
        "slug": "arg1",
        "symbol": "ARG1",
        "name": "arginase 1",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/arg1"
      },
      {
        "slug": "asl",
        "symbol": "ASL",
        "name": "argininosuccinate lyase",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/asl"
      },
      {
        "slug": "ass1",
        "symbol": "ASS1",
        "name": "argininosuccinate synthase 1",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/ass1"
      },
      {
        "slug": "ca5a",
        "symbol": "CA5A",
        "name": "carbonic anhydrase 5A",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/ca5a"
      },
      {
        "slug": "cps1",
        "symbol": "CPS1",
        "name": "carbamoyl-phosphate synthase 1",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/cps1"
      },
      {
        "slug": "glud1",
        "symbol": "GLUD1",
        "name": "glutamate dehydrogenase 1",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/glud1"
      },
      {
        "slug": "mccc1",
        "symbol": "MCCC1",
        "name": "methylcrotonyl-CoA carboxylase subunit 1",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/mccc1"
      },
      {
        "slug": "nags",
        "symbol": "NAGS",
        "name": "N-acetylglutamate synthase",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/nags"
      },
      {
        "slug": "otc",
        "symbol": "OTC",
        "name": "ornithine transcarbamylase",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/otc"
      },
      {
        "slug": "slc25a13",
        "symbol": "SLC25A13",
        "name": "solute carrier family 25 member 13",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/slc25a13"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}