{
  "url": "https://dantelabs.com/nl/genes/mbtps1",
  "gene": {
    "slug": "mbtps1",
    "symbol": "MBTPS1",
    "name": "membrane bound transcription factor peptidase, site 1",
    "hgnc": "HGNC:15456",
    "summary": null,
    "location": "16q23.3-q24.1",
    "locusType": "gene with protein product",
    "aliases": [
      "S1P",
      "KIAA0091",
      "SKI-1",
      "PCSK8"
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    "previousSymbols": [],
    "ensemblId": "ENSG00000140943",
    "entrezId": 8720,
    "omim": [
      "603355"
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    "uniprot": [
      "Q14703"
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      "release": "v1.5",
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      "strand": "-",
      "ensemblTranscript": "ENST00000343411.8",
      "refseqTranscript": "NM_003791.4",
      "ensemblProtein": "ENSP00000344223.3",
      "refseqProtein": "NP_003782.1",
      "exons": [
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      "cds": {
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    },
    "grch37": {
      "build": "GRCh37",
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          "symbol": "CDH13",
          "ensemblId": "ENSG00000140945",
          "biotype": "protein_coding",
          "start": 82626965,
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          "strand": "+",
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        },
        {
          "symbol": "HSBP1",
          "ensemblId": "ENSG00000230989",
          "biotype": "protein_coding",
          "start": 83719311,
          "end": 83819737,
          "strand": "+",
          "slug": "hsbp1"
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        {
          "symbol": "MLYCD",
          "ensemblId": "ENSG00000103150",
          "biotype": "protein_coding",
          "start": 83899057,
          "end": 83951445,
          "strand": "+",
          "slug": "mlycd"
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        {
          "symbol": "OSGIN1",
          "ensemblId": "ENSG00000140961",
          "biotype": "protein_coding",
          "start": 83931311,
          "end": 83966333,
          "strand": "+",
          "slug": "osgin1"
        },
        {
          "symbol": "NECAB2",
          "ensemblId": "ENSG00000103154",
          "biotype": "protein_coding",
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          "slug": "necab2"
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        {
          "symbol": "SLC38A8",
          "ensemblId": "ENSG00000166558",
          "biotype": "protein_coding",
          "start": 84009558,
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          "slug": "slc38a8"
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        {
          "symbol": "",
          "ensemblId": "ENSG00000310590",
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        },
        {
          "symbol": "HSDL1",
          "ensemblId": "ENSG00000103160",
          "biotype": "protein_coding",
          "start": 84122133,
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          "strand": "-",
          "slug": "hsdl1"
        },
        {
          "symbol": "DNAAF1",
          "ensemblId": "ENSG00000154099",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "dnaaf1"
        },
        {
          "symbol": "TAF1C",
          "ensemblId": "ENSG00000103168",
          "biotype": "protein_coding",
          "start": 84177846,
          "end": 84187070,
          "strand": "-",
          "slug": "taf1c"
        },
        {
          "symbol": "ADAD2",
          "ensemblId": "ENSG00000140955",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "adad2"
        },
        {
          "symbol": "KCNG4",
          "ensemblId": "ENSG00000168418",
          "biotype": "protein_coding",
          "start": 84218657,
          "end": 84240016,
          "strand": "-",
          "slug": "kcng4"
        },
        {
          "symbol": "WFDC1",
          "ensemblId": "ENSG00000103175",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "wfdc1"
        },
        {
          "symbol": "ATP2C2",
          "ensemblId": "ENSG00000064270",
          "biotype": "protein_coding",
          "start": 84368476,
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          "strand": "+",
          "slug": "atp2c2"
        },
        {
          "symbol": "MEAK7",
          "ensemblId": "ENSG00000140950",
          "biotype": "protein_coding",
          "start": 84476345,
          "end": 84565284,
          "strand": "-",
          "slug": "meak7"
        },
        {
          "symbol": "COTL1",
          "ensemblId": "ENSG00000103187",
          "biotype": "protein_coding",
          "start": 84565596,
          "end": 84618136,
          "strand": "-",
          "slug": "cotl1"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "decreased-body-weight",
        "name": "Decreased body weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-body-weight"
      },
      {
        "slug": "decreased-serum-zinc",
        "name": "Decreased serum zinc",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-serum-zinc"
      },
      {
        "slug": "delayed-ossification-of-carpal-bones",
        "name": "Delayed maturation of wrist bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-ossification-of-carpal-bones"
      },
      {
        "slug": "delayed-gross-motor-development",
        "name": "Delayed motor skills",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-gross-motor-development"
      },
      {
        "slug": "posteriorly-rotated-ears",
        "name": "Ears rotated toward back of head",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/posteriorly-rotated-ears"
      },
      {
        "slug": "elevated-circulating-beta-glucuronidase-activity",
        "name": "Elevated circulating beta-glucuronidase activity",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-beta-glucuronidase-activity"
      },
      {
        "slug": "photophobia",
        "name": "Extreme sensitivity of the eyes to light",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/photophobia"
      },
      {
        "slug": "follicular-hyperkeratosis",
        "name": "Follicular hyperkeratosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/follicular-hyperkeratosis"
      },
      {
        "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": "alopecia",
        "name": "Hair loss",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/alopecia"
      },
      {
        "slug": "kyphosis",
        "name": "Hunched back",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/kyphosis"
      },
      {
        "slug": "ichthyosis",
        "name": "Ichthyosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ichthyosis"
      },
      {
        "slug": "gingivitis",
        "name": "Inflamed gums",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/gingivitis"
      },
      {
        "slug": "angular-cheilitis",
        "name": "Inflammation of corners of the mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/angular-cheilitis"
      },
      {
        "slug": "stomatitis",
        "name": "Inflammation of the mouth",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/stomatitis"
      },
      {
        "slug": "inguinal-hernia",
        "name": "Inguinal hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/inguinal-hernia"
      },
      {
        "slug": "macrotia",
        "name": "Large ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/macrotia"
      },
      {
        "slug": "reduced-bone-mineral-density",
        "name": "Low solidness and mass of the bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-bone-mineral-density"
      },
      {
        "slug": "myopathy",
        "name": "Muscle tissue disease",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/myopathy"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "paronychia",
        "name": "Paronychia",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/paronychia"
      },
      {
        "slug": "pectus-carinatum",
        "name": "Pigeon chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pectus-carinatum"
      },
      {
        "slug": "prominent-forehead",
        "name": "Prominent forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/prominent-forehead"
      },
      {
        "slug": "psoriasiform-dermatitis",
        "name": "Psoriasiform dermatitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/psoriasiform-dermatitis"
      },
      {
        "slug": "brachydactyly",
        "name": "Short fingers or toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/brachydactyly"
      },
      {
        "slug": "short-femoral-neck",
        "name": "Short neck of thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-femoral-neck"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "small-for-gestational-age",
        "name": "Small for gestational age",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/small-for-gestational-age"
      },
      {
        "slug": "spondyloepiphyseal-dysplasia",
        "name": "Spondyloepiphyseal dysplasia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/spondyloepiphyseal-dysplasia"
      },
      {
        "slug": "easy-fatigability",
        "name": "Tired easily",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/easy-fatigability"
      },
      {
        "slug": "waddling-gait",
        "name": "Waddling gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/waddling-gait"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}