{
  "url": "https://dantelabs.com/ro/genes/pam16",
  "gene": {
    "slug": "pam16",
    "symbol": "PAM16",
    "name": "presequence translocase associated motor 16",
    "hgnc": "HGNC:29679",
    "summary": null,
    "location": "16p13.3",
    "locusType": "gene with protein product",
    "aliases": [
      "Magmas",
      "Tim16",
      "TIMM16"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000217930",
    "entrezId": 51025,
    "omim": [
      "614336"
    ],
    "uniprot": [
      "Q9Y3D7"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "16",
      "start": 4340251,
      "end": 4351321,
      "strand": "-",
      "ensemblTranscript": "ENST00000318059.8",
      "refseqTranscript": "NM_016069.11",
      "ensemblProtein": "ENSP00000315693.3",
      "refseqProtein": "NP_057153.8",
      "exons": [
        {
          "start": 4340251,
          "end": 4340405
        },
        {
          "start": 4340920,
          "end": 4340985
        },
        {
          "start": 4341368,
          "end": 4341504
        },
        {
          "start": 4343207,
          "end": 4343291
        },
        {
          "start": 4351232,
          "end": 4351321
        }
      ],
      "cds": {
        "start": 4340319,
        "end": 4351234
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "16",
      "start": 4381550,
      "end": 4405608,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 3845786,
      "end": 4845785,
      "genes": [
        {
          "symbol": "CREBBP",
          "ensemblId": "ENSG00000005339",
          "biotype": "protein_coding",
          "start": 3725054,
          "end": 3880734,
          "strand": "-",
          "slug": "crebbp"
        },
        {
          "symbol": "ADCY9",
          "ensemblId": "ENSG00000162104",
          "biotype": "protein_coding",
          "start": 3953387,
          "end": 4116493,
          "strand": "-",
          "slug": "adcy9"
        },
        {
          "symbol": "SRL",
          "ensemblId": "ENSG00000185739",
          "biotype": "protein_coding",
          "start": 4189369,
          "end": 4242283,
          "strand": "-",
          "slug": "srl"
        },
        {
          "symbol": "TFAP4",
          "ensemblId": "ENSG00000090447",
          "biotype": "protein_coding",
          "start": 4257186,
          "end": 4273075,
          "strand": "-",
          "slug": "tfap4"
        },
        {
          "symbol": "GLIS2",
          "ensemblId": "ENSG00000126603",
          "biotype": "protein_coding",
          "start": 4314761,
          "end": 4339597,
          "strand": "+",
          "slug": "glis2"
        },
        {
          "symbol": "CORO7-PAM16",
          "ensemblId": "ENSG00000103426",
          "biotype": "protein_coding",
          "start": 4340251,
          "end": 4420494,
          "strand": "-",
          "slug": "coro7-pam16"
        },
        {
          "symbol": "CORO7",
          "ensemblId": "ENSG00000262246",
          "biotype": "protein_coding",
          "start": 4354542,
          "end": 4425705,
          "strand": "-",
          "slug": "coro7"
        },
        {
          "symbol": "VASN",
          "ensemblId": "ENSG00000168140",
          "biotype": "protein_coding",
          "start": 4371841,
          "end": 4383538,
          "strand": "+",
          "slug": "vasn"
        },
        {
          "symbol": "DNAJA3",
          "ensemblId": "ENSG00000103423",
          "biotype": "protein_coding",
          "start": 4425805,
          "end": 4460593,
          "strand": "+",
          "slug": "dnaja3"
        },
        {
          "symbol": "NMRAL1",
          "ensemblId": "ENSG00000153406",
          "biotype": "protein_coding",
          "start": 4461673,
          "end": 4495763,
          "strand": "-",
          "slug": "nmral1"
        },
        {
          "symbol": "HMOX2",
          "ensemblId": "ENSG00000103415",
          "biotype": "protein_coding",
          "start": 4474246,
          "end": 4510663,
          "strand": "+",
          "slug": "hmox2"
        },
        {
          "symbol": "CDIP1",
          "ensemblId": "ENSG00000089486",
          "biotype": "protein_coding",
          "start": 4510619,
          "end": 4538833,
          "strand": "-",
          "slug": "cdip1"
        },
        {
          "symbol": "C16orf96",
          "ensemblId": "ENSG00000205832",
          "biotype": "protein_coding",
          "start": 4556336,
          "end": 4600772,
          "strand": "+",
          "slug": "c16orf96"
        },
        {
          "symbol": "UBALD1",
          "ensemblId": "ENSG00000153443",
          "biotype": "protein_coding",
          "start": 4608879,
          "end": 4615046,
          "strand": "-",
          "slug": "ubald1"
        },
        {
          "symbol": "MGRN1",
          "ensemblId": "ENSG00000102858",
          "biotype": "protein_coding",
          "start": 4616493,
          "end": 4690977,
          "strand": "+",
          "slug": "mgrn1"
        },
        {
          "symbol": "NUDT16L1",
          "ensemblId": "ENSG00000168101",
          "biotype": "protein_coding",
          "start": 4693562,
          "end": 4695861,
          "strand": "+",
          "slug": "nudt16l1"
        },
        {
          "symbol": "ANKS3",
          "ensemblId": "ENSG00000168096",
          "biotype": "protein_coding",
          "start": 4696500,
          "end": 4734388,
          "strand": "-",
          "slug": "anks3"
        },
        {
          "symbol": "DNAAF8",
          "ensemblId": "ENSG00000166246",
          "biotype": "protein_coding",
          "start": 4734315,
          "end": 4749396,
          "strand": "+",
          "slug": "dnaaf8"
        },
        {
          "symbol": "ZNF500",
          "ensemblId": "ENSG00000103199",
          "biotype": "protein_coding",
          "start": 4748239,
          "end": 4767624,
          "strand": "-",
          "slug": "znf500"
        },
        {
          "symbol": "SEPTIN12",
          "ensemblId": "ENSG00000140623",
          "biotype": "protein_coding",
          "start": 4777606,
          "end": 4788398,
          "strand": "-",
          "slug": "septin12"
        },
        {
          "symbol": "SMIM22",
          "ensemblId": "ENSG00000267795",
          "biotype": "protein_coding",
          "start": 4788376,
          "end": 4796731,
          "strand": "+",
          "slug": "smim22"
        },
        {
          "symbol": "ROGDI",
          "ensemblId": "ENSG00000067836",
          "biotype": "protein_coding",
          "start": 4796962,
          "end": 4802926,
          "strand": "-",
          "slug": "rogdi"
        },
        {
          "symbol": "GLYR1",
          "ensemblId": "ENSG00000140632",
          "biotype": "protein_coding",
          "start": 4803202,
          "end": 4847343,
          "strand": "-",
          "slug": "glyr1"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "dysplastic-sacrum",
        "name": "Absence of some of the sacral and coccygeal bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/dysplastic-sacrum"
      },
      {
        "slug": "vascular-dilatation",
        "name": "Aneurysm",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/vascular-dilatation"
      },
      {
        "slug": "bell-shaped-thorax",
        "name": "Bell-shaped thorax",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/bell-shaped-thorax"
      },
      {
        "slug": "wide-distal-femoral-metaphysis",
        "name": "Broad outermost wide portion of thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/wide-distal-femoral-metaphysis"
      },
      {
        "slug": "hypokinesia",
        "name": "Decreased muscle movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hypokinesia"
      },
      {
        "slug": "deep-philtrum",
        "name": "Deep philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/deep-philtrum"
      },
      {
        "slug": "delayed-skeletal-maturation",
        "name": "Delayed bone maturation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/delayed-skeletal-maturation"
      },
      {
        "slug": "delayed-epiphyseal-ossification",
        "name": "Delayed maturation of end part of long bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-epiphyseal-ossification"
      },
      {
        "slug": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "cardiomegaly",
        "name": "Enlarged heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/cardiomegaly"
      },
      {
        "slug": "wormian-bones",
        "name": "Extra bones within cranial sutures",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/wormian-bones"
      },
      {
        "slug": "flat-acetabular-roof",
        "name": "Flat acetabular roof",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/flat-acetabular-roof"
      },
      {
        "slug": "frontal-bossing",
        "name": "Frontal bossing",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/frontal-bossing"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "postnatal-growth-retardation",
        "name": "Growth delay as children",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/postnatal-growth-retardation"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "hypoplastic-ischia",
        "name": "Hypoplastic ischia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypoplastic-ischia"
      },
      {
        "slug": "iliac-crest-serration",
        "name": "Iliac crest serration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/iliac-crest-serration"
      },
      {
        "slug": "pulmonary-arterial-hypertension",
        "name": "Increased blood pressure in blood vessels of lungs",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/pulmonary-arterial-hypertension"
      },
      {
        "slug": "tachypnea",
        "name": "Increased respiratory rate or depth of breathing",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/tachypnea"
      },
      {
        "slug": "axial-hypotonia",
        "name": "Low muscle tone in trunk",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/axial-hypotonia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "metaphyseal-cupping",
        "name": "Metaphyseal cupping",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/metaphyseal-cupping"
      },
      {
        "slug": "narrow-chest",
        "name": "Narrow chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/narrow-chest"
      },
      {
        "slug": "anteverted-nares",
        "name": "Nasal tip, upturned",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/anteverted-nares"
      },
      {
        "slug": "prominent-forehead",
        "name": "Prominent forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/prominent-forehead"
      },
      {
        "slug": "round-face",
        "name": "Round face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/round-face"
      },
      {
        "slug": "severe-platyspondyly",
        "name": "Severe platyspondyly",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/severe-platyspondyly"
      },
      {
        "slug": "short-long-bone",
        "name": "Short long bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-long-bone"
      },
      {
        "slug": "short-neck",
        "name": "Short neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/short-neck"
      },
      {
        "slug": "short-nose",
        "name": "Short nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/short-nose"
      },
      {
        "slug": "short-ribs",
        "name": "Short ribs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-ribs"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "microtia",
        "name": "Small ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/microtia"
      },
      {
        "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": "micromelia",
        "name": "Smaller or shorter than typical limbs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/micromelia"
      },
      {
        "slug": "spondylometaphyseal-dysplasia",
        "name": "Spondylometaphyseal dysplasia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/spondylometaphyseal-dysplasia"
      },
      {
        "slug": "squared-iliac-bones",
        "name": "Squared iliac bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/squared-iliac-bones"
      },
      {
        "slug": "large-fontanelles",
        "name": "Wide fontanelles",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/large-fontanelles"
      },
      {
        "slug": "wide-nose",
        "name": "Wide nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/wide-nose"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}