{
  "url": "https://dantelabs.com/hu/genes/ass1",
  "gene": {
    "slug": "ass1",
    "symbol": "ASS1",
    "name": "argininosuccinate synthase 1",
    "hgnc": "HGNC:758",
    "summary": null,
    "location": "9q34.11",
    "locusType": "gene with protein product",
    "aliases": [
      "CTLN1"
    ],
    "previousSymbols": [
      "ASS"
    ],
    "ensemblId": "ENSG00000130707",
    "entrezId": 445,
    "omim": [
      "603470"
    ],
    "uniprot": [
      "P00966"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "9",
      "start": 130444961,
      "end": 130501274,
      "strand": "+",
      "ensemblTranscript": "ENST00000352480.10",
      "refseqTranscript": "NM_054012.4",
      "ensemblProtein": "ENSP00000253004.6",
      "refseqProtein": "NP_446464.1",
      "exons": [
        {
          "start": 130444961,
          "end": 130444995
        },
        {
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        },
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        },
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        },
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        },
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        },
        {
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        },
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        },
        {
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          "end": 130499570
        },
        {
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          "end": 130501274
        }
      ],
      "cds": {
        "start": 130452229,
        "end": 130501021
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "9",
      "start": 133320316,
      "end": 133376661,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 129973118,
      "end": 130973117,
      "genes": [
        {
          "symbol": "FNBP1",
          "ensemblId": "ENSG00000187239",
          "biotype": "protein_coding",
          "start": 129887179,
          "end": 130043243,
          "strand": "-",
          "slug": "fnbp1"
        },
        {
          "symbol": "GPR107",
          "ensemblId": "ENSG00000148358",
          "biotype": "protein_coding",
          "start": 130053426,
          "end": 130140169,
          "strand": "+",
          "slug": "gpr107"
        },
        {
          "symbol": "NCS1",
          "ensemblId": "ENSG00000107130",
          "biotype": "protein_coding",
          "start": 130172315,
          "end": 130237737,
          "strand": "+",
          "slug": "ncs1"
        },
        {
          "symbol": "HMCN2",
          "ensemblId": "ENSG00000148357",
          "biotype": "protein_coding",
          "start": 130265746,
          "end": 130434123,
          "strand": "+",
          "slug": "hmcn2"
        },
        {
          "symbol": "FUBP3",
          "ensemblId": "ENSG00000107164",
          "biotype": "protein_coding",
          "start": 130578965,
          "end": 130638354,
          "strand": "+",
          "slug": "fubp3"
        },
        {
          "symbol": "PRDM12",
          "ensemblId": "ENSG00000130711",
          "biotype": "protein_coding",
          "start": 130664594,
          "end": 130682986,
          "strand": "+",
          "slug": "prdm12"
        },
        {
          "symbol": "EXOSC2",
          "ensemblId": "ENSG00000130713",
          "biotype": "protein_coding",
          "start": 130693721,
          "end": 130707608,
          "strand": "+",
          "slug": "exosc2"
        },
        {
          "symbol": "ABL1",
          "ensemblId": "ENSG00000097007",
          "biotype": "protein_coding",
          "start": 130713043,
          "end": 130887675,
          "strand": "+",
          "slug": "abl1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000288570",
          "biotype": "protein_coding",
          "start": 130713626,
          "end": 130713724,
          "strand": "+"
        },
        {
          "symbol": "QRFP",
          "ensemblId": "ENSG00000188710",
          "biotype": "protein_coding",
          "start": 130892707,
          "end": 130896812,
          "strand": "-",
          "slug": "qrfp"
        },
        {
          "symbol": "FIBCD1",
          "ensemblId": "ENSG00000130720",
          "biotype": "protein_coding",
          "start": 130900194,
          "end": 130941232,
          "strand": "-",
          "slug": "fibcd1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "citrullinemia",
        "name": "Citrullinemia",
        "diseases": [
          {
            "mondoId": "MONDO:0015991",
            "name": "Citrullinemia",
            "genes": 2,
            "inheritance": "autosomal-recessive",
            "description": "Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma; hepatic dysfunction in all age groups; episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs). Citrullinemia is divided into two main groups that are encoded by different genes: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of adult-onset citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency).",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Myriad Women's Health",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ],
              "actionability": 10
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/citrullinemia"
      },
      {
        "slug": "urea-cycle-disorder",
        "name": "Urea Cycle Disorder",
        "diseases": [
          {
            "mondoId": "MONDO:0004739",
            "name": "Urea Cycle Disorder",
            "genes": 11,
            "inheritance": null,
            "description": "A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body.",
            "management": "Nitrogen scavenger therapy (sodium benzoate, glycerol phenylbutyrate/Ravicti); protein-restricted diet with essential amino acid supplementation; emergency hyperammonemia protocols; liver transplantation (curative); mRNA therapy trials for OTC; carglumic acid for NAGS deficiency",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Myriad Women's Health",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ],
              "actionability": 10
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/urea-cycle-disorder"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "cerebral-edema",
        "name": "Brain swelling",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cerebral-edema"
      },
      {
        "slug": "coma",
        "name": "Coma",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/coma"
      },
      {
        "slug": "elevated-circulating-citrulline-concentration",
        "name": "Elevated circulating citrulline concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-citrulline-concentration"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "episodic-ammonia-intoxication",
        "name": "Episodic ammonia intoxication",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/episodic-ammonia-intoxication"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "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": "hyperglutaminemia",
        "name": "High plasma glutamine",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperglutaminemia"
      },
      {
        "slug": "oroticaciduria",
        "name": "High urine orotic acid levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/oroticaciduria"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "irritability",
        "name": "Irritability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/irritability"
      },
      {
        "slug": "lethargy",
        "name": "Lethargy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/lethargy"
      },
      {
        "slug": "hypoargininemia",
        "name": "Low blood arginine levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hypoargininemia"
      },
      {
        "slug": "protein-avoidance",
        "name": "Protein avoidance",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/protein-avoidance"
      },
      {
        "slug": "reduced-tissue-argininosuccinate-synthetase-activity",
        "name": "Reduced tissue argininosuccinate synthetase activity",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-tissue-argininosuccinate-synthetase-activity"
      },
      {
        "slug": "respiratory-alkalosis",
        "name": "Respiratory alkalosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/respiratory-alkalosis"
      },
      {
        "slug": "cirrhosis",
        "name": "Scar tissue replaces healthy tissue in the liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/cirrhosis"
      },
      {
        "slug": "stroke",
        "name": "Stroke",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/stroke"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/vomiting"
      }
    ],
    "related": [
      {
        "slug": "slc25a13",
        "symbol": "SLC25A13",
        "name": "solute carrier family 25 member 13",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/slc25a13"
      },
      {
        "slug": "arg1",
        "symbol": "ARG1",
        "name": "arginase 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/arg1"
      },
      {
        "slug": "asl",
        "symbol": "ASL",
        "name": "argininosuccinate lyase",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/asl"
      },
      {
        "slug": "ca5a",
        "symbol": "CA5A",
        "name": "carbonic anhydrase 5A",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ca5a"
      },
      {
        "slug": "cps1",
        "symbol": "CPS1",
        "name": "carbamoyl-phosphate synthase 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cps1"
      },
      {
        "slug": "glud1",
        "symbol": "GLUD1",
        "name": "glutamate dehydrogenase 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/glud1"
      },
      {
        "slug": "mccc1",
        "symbol": "MCCC1",
        "name": "methylcrotonyl-CoA carboxylase subunit 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/mccc1"
      },
      {
        "slug": "nags",
        "symbol": "NAGS",
        "name": "N-acetylglutamate synthase",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/nags"
      },
      {
        "slug": "otc",
        "symbol": "OTC",
        "name": "ornithine transcarbamylase",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/otc"
      },
      {
        "slug": "slc25a15",
        "symbol": "SLC25A15",
        "name": "solute carrier family 25 member 15",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/slc25a15"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}