{
  "url": "https://dantelabs.com/fr/genes/mocs3",
  "gene": {
    "slug": "mocs3",
    "symbol": "MOCS3",
    "name": "molybdenum cofactor synthesis 3",
    "hgnc": "HGNC:15765",
    "summary": null,
    "location": "20q13.13",
    "locusType": "gene with protein product",
    "aliases": [
      "UBA4",
      "dJ914P20.3"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000124217",
    "entrezId": 27304,
    "omim": [
      "609277"
    ],
    "uniprot": [
      "O95396"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "20",
      "start": 50958818,
      "end": 50963929,
      "strand": "+",
      "ensemblTranscript": "ENST00000244051.3",
      "refseqTranscript": "NM_014484.5",
      "ensemblProtein": "ENSP00000244051.1",
      "refseqProtein": "NP_055299.1",
      "exons": [
        {
          "start": 50958818,
          "end": 50963929
        }
      ],
      "cds": {
        "start": 50958843,
        "end": 50960225
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "20",
      "start": 49575363,
      "end": 49577820,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 50461374,
      "end": 51461373,
      "genes": [
        {
          "symbol": "PTPN1",
          "ensemblId": "ENSG00000196396",
          "biotype": "protein_coding",
          "start": 50510321,
          "end": 50585241,
          "strand": "+",
          "slug": "ptpn1"
        },
        {
          "symbol": "RIPOR3",
          "ensemblId": "ENSG00000042062",
          "biotype": "protein_coding",
          "start": 50585180,
          "end": 50692021,
          "strand": "-",
          "slug": "ripor3"
        },
        {
          "symbol": "PARD6B",
          "ensemblId": "ENSG00000124171",
          "biotype": "protein_coding",
          "start": 50731365,
          "end": 50756836,
          "strand": "+",
          "slug": "pard6b"
        },
        {
          "symbol": "BCAS4",
          "ensemblId": "ENSG00000124243",
          "biotype": "protein_coding",
          "start": 50794894,
          "end": 50877179,
          "strand": "+",
          "slug": "bcas4"
        },
        {
          "symbol": "ADNP",
          "ensemblId": "ENSG00000101126",
          "biotype": "protein_coding",
          "start": 50854048,
          "end": 50931437,
          "strand": "-",
          "slug": "adnp"
        },
        {
          "symbol": "DPM1",
          "ensemblId": "ENSG00000000419",
          "biotype": "protein_coding",
          "start": 50932897,
          "end": 50959145,
          "strand": "-",
          "slug": "dpm1"
        },
        {
          "symbol": "KCNG1",
          "ensemblId": "ENSG00000026559",
          "biotype": "protein_coding",
          "start": 51003655,
          "end": 51023244,
          "strand": "-",
          "slug": "kcng1"
        },
        {
          "symbol": "NFATC2",
          "ensemblId": "ENSG00000101096",
          "biotype": "protein_coding",
          "start": 51386957,
          "end": 51563072,
          "strand": "-",
          "slug": "nfatc2"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "autism",
        "name": "Autism",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/autism"
      },
      {
        "slug": "dental-malocclusion",
        "name": "Bad bite",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dental-malocclusion"
      },
      {
        "slug": "bilateral-tonic-clonic-seizure-with-generalized-onset",
        "name": "Bilateral tonic-clonic seizure with generalized onset",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure-with-generalized-onset"
      },
      {
        "slug": "delayed-ability-to-roll-over",
        "name": "Delayed ability to roll over",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-ability-to-roll-over"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "secondary-microcephaly",
        "name": "Development of small head that was not present at birth",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/secondary-microcephaly"
      },
      {
        "slug": "drooling",
        "name": "Drooling",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/drooling"
      },
      {
        "slug": "encephalomalacia",
        "name": "Encephalomalacia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/encephalomalacia"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "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": "hyperextensible-hand-joints",
        "name": "Hyperextensible hand joints",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperextensible-hand-joints"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "increased-urinary-hypoxanthine-level",
        "name": "Increased urinary hypoxanthine level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-urinary-hypoxanthine-level"
      },
      {
        "slug": "increased-urinary-thiosulfate",
        "name": "Increased urinary thiosulfate",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-urinary-thiosulfate"
      },
      {
        "slug": "truncal-ataxia",
        "name": "Instability or lack of coordination of central trunk muscles",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/truncal-ataxia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "adducted-thumb",
        "name": "Inward turned thumb",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/adducted-thumb"
      },
      {
        "slug": "long-foot",
        "name": "Long foot",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/long-foot"
      },
      {
        "slug": "long-philtrum",
        "name": "Long philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/long-philtrum"
      },
      {
        "slug": "arachnodactyly",
        "name": "Long slender fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/arachnodactyly"
      },
      {
        "slug": "long-toe",
        "name": "Long toe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/long-toe"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "cubitus-valgus",
        "name": "Outward turned elbows",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cubitus-valgus"
      },
      {
        "slug": "persistent-head-lag",
        "name": "Persistent head lag",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/persistent-head-lag"
      },
      {
        "slug": "phonic-tics",
        "name": "Phonic tics",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/phonic-tics"
      },
      {
        "slug": "recurrent-pneumonia",
        "name": "Recurrent pneumonia",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-pneumonia"
      },
      {
        "slug": "respiratory-insufficiency",
        "name": "Respiratory function loss",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency"
      },
      {
        "slug": "severe-global-developmental-delay",
        "name": "Severe global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/severe-global-developmental-delay"
      },
      {
        "slug": "hypertonia",
        "name": "Spasticity and rigidity of muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertonia"
      },
      {
        "slug": "sulfocysteinuria",
        "name": "Sulfocysteinuria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sulfocysteinuria"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertelorism"
      },
      {
        "slug": "xanthinuria",
        "name": "Xanthinuria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/xanthinuria"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}