{
  "url": "https://dantelabs.com/pl/genes/arg1",
  "gene": {
    "slug": "arg1",
    "symbol": "ARG1",
    "name": "arginase 1",
    "hgnc": "HGNC:663",
    "summary": null,
    "location": "6q23.2",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000118520",
    "entrezId": 383,
    "omim": [
      "608313"
    ],
    "uniprot": [
      "P05089"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "6",
      "start": 131573226,
      "end": 131584329,
      "strand": "+",
      "ensemblTranscript": "ENST00000368087.8",
      "refseqTranscript": "NM_000045.4",
      "ensemblProtein": "ENSP00000357066.3",
      "refseqProtein": "NP_000036.2",
      "exons": [
        {
          "start": 131573226,
          "end": 131573339
        },
        {
          "start": 131576663,
          "end": 131576735
        },
        {
          "start": 131579111,
          "end": 131579285
        },
        {
          "start": 131581219,
          "end": 131581378
        },
        {
          "start": 131582621,
          "end": 131582715
        },
        {
          "start": 131583060,
          "end": 131583164
        },
        {
          "start": 131583355,
          "end": 131583491
        },
        {
          "start": 131583742,
          "end": 131584329
        }
      ],
      "cds": {
        "start": 131573283,
        "end": 131583908
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "6",
      "start": 131894284,
      "end": 131905472,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 131078778,
      "end": 132078777,
      "genes": [
        {
          "symbol": "AKAP7",
          "ensemblId": "ENSG00000118507",
          "biotype": "protein_coding",
          "start": 131135216,
          "end": 131283535,
          "strand": "+",
          "slug": "akap7"
        },
        {
          "symbol": "MED23",
          "ensemblId": "ENSG00000112282",
          "biotype": "protein_coding",
          "start": 131572244,
          "end": 131628313,
          "strand": "-",
          "slug": "med23"
        },
        {
          "symbol": "ENPP3",
          "ensemblId": "ENSG00000154269",
          "biotype": "protein_coding",
          "start": 131628292,
          "end": 131749043,
          "strand": "+",
          "slug": "enpp3"
        },
        {
          "symbol": "OR2A4",
          "ensemblId": "ENSG00000180658",
          "biotype": "protein_coding",
          "start": 131699644,
          "end": 131701401,
          "strand": "-",
          "slug": "or2a4"
        },
        {
          "symbol": "CTAGE9",
          "ensemblId": "ENSG00000236761",
          "biotype": "protein_coding",
          "start": 131708441,
          "end": 131711017,
          "strand": "-",
          "slug": "ctage9"
        },
        {
          "symbol": "ENPP1",
          "ensemblId": "ENSG00000197594",
          "biotype": "protein_coding",
          "start": 131807993,
          "end": 131895160,
          "strand": "+",
          "slug": "enpp1"
        },
        {
          "symbol": "CCN2",
          "ensemblId": "ENSG00000118523",
          "biotype": "protein_coding",
          "start": 131948176,
          "end": 131951456,
          "strand": "-",
          "slug": "ccn2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "urea-cycle-disorder",
        "name": "Zaburzenie cyklu mocznikowego",
        "diseases": [
          {
            "mondoId": "MONDO:0004739",
            "name": "Zaburzenie cyklu mocznikowego",
            "genes": 11,
            "inheritance": null,
            "description": "Genetyczne wrodzone zaburzenie metabolizmu, charakteryzujące się niedoborem jednego z enzymów niezbędnych do cyklu mocznikowego. Prowadzi do nagromadzenia amoniaku w organizmie.",
            "management": "Terapia wychwytywania azotu (benzoesan sodu, glicerolu fenylomaślanu/Ravicti); dieta ograniczona w białko z suplementacją aminokwasów egzogennych; protokoły postępowania awaryjnego w hiperamonemii; przeszczep wątroby (leczenie przyczynowe); badania terapii mRNA w niedoborze OTC; kwas karglumowy w niedoborze NAGS",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Myriad Women's Health",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ],
              "actionability": 7
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/pl/conditions/urea-cycle-disorder"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-speech-pattern",
        "name": "Abnormal speech pattern",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-speech-pattern"
      },
      {
        "slug": "anorexia",
        "name": "Anorexia",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/anorexia"
      },
      {
        "slug": "atypical-behavior",
        "name": "Behavioral abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/atypical-behavior"
      },
      {
        "slug": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebellar-atrophy"
      },
      {
        "slug": "diaminoaciduria",
        "name": "Diaminoaciduria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/diaminoaciduria"
      },
      {
        "slug": "eeg-abnormality",
        "name": "EEG abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/eeg-abnormality"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "episodic-vomiting",
        "name": "Episodic vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/episodic-vomiting"
      },
      {
        "slug": "frequent-falls",
        "name": "Frequent falls",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/frequent-falls"
      },
      {
        "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": "postnatal-growth-retardation",
        "name": "Growth delay as children",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/postnatal-growth-retardation"
      },
      {
        "slug": "hyperammonemia",
        "name": "High blood ammonia levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperammonemia"
      },
      {
        "slug": "hyperargininemia",
        "name": "High blood arginine levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperargininemia"
      },
      {
        "slug": "oroticaciduria",
        "name": "High urine orotic acid levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "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": "severe-intellectual-disability",
        "name": "Intellectual disability, severe",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/severe-intellectual-disability"
      },
      {
        "slug": "irritability",
        "name": "Irritability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/irritability"
      },
      {
        "slug": "micronodular-cirrhosis",
        "name": "Micronodular cirrhosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/micronodular-cirrhosis"
      },
      {
        "slug": "hyperactivity",
        "name": "More active than typical",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hyperactivity"
      },
      {
        "slug": "hemiplegia-hemiparesis",
        "name": "Paralysis or weakness of one side of body",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hemiplegia-hemiparesis"
      },
      {
        "slug": "portal-fibrosis",
        "name": "Portal fibrosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/portal-fibrosis"
      },
      {
        "slug": "progressive-spastic-quadriplegia",
        "name": "Progressive spastic quadriplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/progressive-spastic-quadriplegia"
      },
      {
        "slug": "reduced-erythrocyte-arginase-activity",
        "name": "Reduced erythrocyte arginase activity",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/reduced-erythrocyte-arginase-activity"
      },
      {
        "slug": "cholestasis",
        "name": "Slowed or blocked flow of bile from liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cholestasis"
      },
      {
        "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-gait",
        "name": "Spastic walk",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/spastic-gait"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/vomiting"
      }
    ],
    "related": [
      {
        "slug": "asl",
        "symbol": "ASL",
        "name": "argininosuccinate lyase",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/asl"
      },
      {
        "slug": "ass1",
        "symbol": "ASS1",
        "name": "argininosuccinate synthase 1",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/ass1"
      },
      {
        "slug": "ca5a",
        "symbol": "CA5A",
        "name": "carbonic anhydrase 5A",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/ca5a"
      },
      {
        "slug": "cps1",
        "symbol": "CPS1",
        "name": "carbamoyl-phosphate synthase 1",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/cps1"
      },
      {
        "slug": "glud1",
        "symbol": "GLUD1",
        "name": "glutamate dehydrogenase 1",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/glud1"
      },
      {
        "slug": "mccc1",
        "symbol": "MCCC1",
        "name": "methylcrotonyl-CoA carboxylase subunit 1",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/mccc1"
      },
      {
        "slug": "nags",
        "symbol": "NAGS",
        "name": "N-acetylglutamate synthase",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/nags"
      },
      {
        "slug": "otc",
        "symbol": "OTC",
        "name": "ornithine transcarbamylase",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/otc"
      },
      {
        "slug": "slc25a13",
        "symbol": "SLC25A13",
        "name": "solute carrier family 25 member 13",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/slc25a13"
      },
      {
        "slug": "slc25a15",
        "symbol": "SLC25A15",
        "name": "solute carrier family 25 member 15",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/slc25a15"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}