{
  "url": "https://dantelabs.com/fr/genes/cyp2u1",
  "gene": {
    "slug": "cyp2u1",
    "symbol": "CYP2U1",
    "name": "cytochrome P450 family 2 subfamily U member 1",
    "hgnc": "HGNC:20582",
    "summary": null,
    "location": "4q25",
    "locusType": "gene with protein product",
    "aliases": [
      "SPG49"
    ],
    "previousSymbols": [
      "SPG56"
    ],
    "ensemblId": "ENSG00000155016",
    "entrezId": 113612,
    "omim": [
      "610670"
    ],
    "uniprot": [
      "Q7Z449"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "4",
      "start": 107931549,
      "end": 107953461,
      "strand": "+",
      "ensemblTranscript": "ENST00000332884.11",
      "refseqTranscript": "NM_183075.3",
      "ensemblProtein": "ENSP00000333212.6",
      "refseqProtein": "NP_898898.1",
      "exons": [
        {
          "start": 107931549,
          "end": 107932133
        },
        {
          "start": 107944970,
          "end": 107945605
        },
        {
          "start": 107947376,
          "end": 107947537
        },
        {
          "start": 107949350,
          "end": 107949517
        },
        {
          "start": 107950245,
          "end": 107953461
        }
      ],
      "cds": {
        "start": 107931644,
        "end": 107950423
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "4",
      "start": 108852525,
      "end": 108874613,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 107442505,
      "end": 108442504,
      "genes": [
        {
          "symbol": "PAPSS1",
          "ensemblId": "ENSG00000138801",
          "biotype": "protein_coding",
          "start": 107590276,
          "end": 107720395,
          "strand": "-",
          "slug": "papss1"
        },
        {
          "symbol": "SGMS2",
          "ensemblId": "ENSG00000164023",
          "biotype": "protein_coding",
          "start": 107824563,
          "end": 107915047,
          "strand": "+",
          "slug": "sgms2"
        },
        {
          "symbol": "HADH",
          "ensemblId": "ENSG00000138796",
          "biotype": "protein_coding",
          "start": 107989683,
          "end": 108035241,
          "strand": "+",
          "slug": "hadh"
        },
        {
          "symbol": "LEF1",
          "ensemblId": "ENSG00000138795",
          "biotype": "protein_coding",
          "start": 108045592,
          "end": 108169198,
          "strand": "-",
          "slug": "lef1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-spastic-paraplegia",
        "name": "Paraplégie spastique héréditaire",
        "diseases": [
          {
            "mondoId": "MONDO:0014015",
            "name": "Paraplégie spastique héréditaire de type 56",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Toute paraplégie spastique héréditaire dont la cause est une mutation du gène CYP2U1.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0019064",
            "name": "Paraplégie spastique héréditaire (tous types)",
            "genes": 66,
            "inheritance": null,
            "description": "Terme général regroupant toutes les paraplégies spastiques héréditaires, y compris SPG4 (SPAST), la forme dominante la plus fréquente, ainsi que SPG5A, SPG6, SPG10, SPG18, SPG30 et SPG31.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/hereditary-spastic-paraplegia"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-cerebral-white-matter-morphology",
        "name": "Abnormal cerebral white matter morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-cerebral-white-matter-morphology"
      },
      {
        "slug": "abnormal-globus-pallidus-morphology",
        "name": "Abnormal globus pallidus morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-globus-pallidus-morphology"
      },
      {
        "slug": "babinski-sign",
        "name": "Babinski sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/babinski-sign"
      },
      {
        "slug": "basal-ganglia-calcification",
        "name": "Basal ganglia calcification",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/basal-ganglia-calcification"
      },
      {
        "slug": "cognitive-impairment",
        "name": "Cognitive impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cognitive-impairment"
      },
      {
        "slug": "delayed-ability-to-walk",
        "name": "Delayed ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-ability-to-walk"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "lower-limb-hyperreflexia",
        "name": "Overactive lower leg reflex",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lower-limb-hyperreflexia"
      },
      {
        "slug": "peripheral-axonal-neuropathy",
        "name": "Peripheral axonal neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/peripheral-axonal-neuropathy"
      },
      {
        "slug": "spastic-paraplegia",
        "name": "Spastic paraplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "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": "tip-toe-gait",
        "name": "Toe walking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tip-toe-gait"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "unsteady-gait",
        "name": "Unsteady walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/unsteady-gait"
      },
      {
        "slug": "upper-limb-hyperreflexia",
        "name": "Upper limb hyperreflexia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/upper-limb-hyperreflexia"
      }
    ],
    "related": [
      {
        "slug": "abcd1",
        "symbol": "ABCD1",
        "name": "ATP binding cassette subfamily D member 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/abcd1"
      },
      {
        "slug": "abhd16a",
        "symbol": "ABHD16A",
        "name": "abhydrolase domain containing 16A, phospholipase",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/abhd16a"
      },
      {
        "slug": "aldh18a1",
        "symbol": "ALDH18A1",
        "name": "aldehyde dehydrogenase 18 family member A1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/aldh18a1"
      },
      {
        "slug": "amfr",
        "symbol": "AMFR",
        "name": "autocrine motility factor receptor",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/amfr"
      },
      {
        "slug": "ap4b1",
        "symbol": "AP4B1",
        "name": "adaptor related protein complex 4 subunit beta 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/ap4b1"
      },
      {
        "slug": "ap4e1",
        "symbol": "AP4E1",
        "name": "adaptor related protein complex 4 subunit epsilon 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/ap4e1"
      },
      {
        "slug": "ap4m1",
        "symbol": "AP4M1",
        "name": "adaptor related protein complex 4 subunit mu 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/ap4m1"
      },
      {
        "slug": "ap4s1",
        "symbol": "AP4S1",
        "name": "adaptor related protein complex 4 subunit sigma 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/ap4s1"
      },
      {
        "slug": "ap5z1",
        "symbol": "AP5Z1",
        "name": "adaptor related protein complex 5 subunit zeta 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/ap5z1"
      },
      {
        "slug": "arl6ip1",
        "symbol": "ARL6IP1",
        "name": "ARL6 interacting reticulophagy regulator 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/arl6ip1"
      },
      {
        "slug": "atl1",
        "symbol": "ATL1",
        "name": "atlastin GTPase 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/atl1"
      },
      {
        "slug": "atp13a2",
        "symbol": "ATP13A2",
        "name": "ATPase cation transporting 13A2",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/atp13a2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}