{
  "url": "https://dantelabs.com/tr/genes/mmp1",
  "gene": {
    "slug": "mmp1",
    "symbol": "MMP1",
    "name": "matrix metallopeptidase 1",
    "hgnc": "HGNC:7155",
    "summary": null,
    "location": "11q22.2",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [
      "CLG"
    ],
    "ensemblId": "ENSG00000196611",
    "entrezId": 4312,
    "omim": [
      "120353"
    ],
    "uniprot": [
      "P03956"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "11",
      "start": 102789919,
      "end": 102798160,
      "strand": "-",
      "ensemblTranscript": "ENST00000315274.7",
      "refseqTranscript": "NM_002421.4",
      "ensemblProtein": "ENSP00000322788.6",
      "refseqProtein": "NP_002412.1",
      "exons": [
        {
          "start": 102789919,
          "end": 102790521
        },
        {
          "start": 102790703,
          "end": 102790806
        },
        {
          "start": 102791333,
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        {
          "start": 102792605,
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        },
        {
          "start": 102795174,
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        },
        {
          "start": 102795452,
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        },
        {
          "start": 102796664,
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        },
        {
          "start": 102797014,
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        },
        {
          "start": 102797256,
          "end": 102797500
        },
        {
          "start": 102797988,
          "end": 102798160
        }
      ],
      "cds": {
        "start": 102790412,
        "end": 102798092
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "11",
      "start": 102660651,
      "end": 102668891,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 102294040,
      "end": 103294039,
      "genes": [
        {
          "symbol": "BIRC3",
          "ensemblId": "ENSG00000023445",
          "biotype": "protein_coding",
          "start": 102317451,
          "end": 102339403,
          "strand": "+",
          "slug": "birc3"
        },
        {
          "symbol": "BIRC2",
          "ensemblId": "ENSG00000110330",
          "biotype": "protein_coding",
          "start": 102347208,
          "end": 102378680,
          "strand": "+",
          "slug": "birc2"
        },
        {
          "symbol": "TMEM123",
          "ensemblId": "ENSG00000152558",
          "biotype": "protein_coding",
          "start": 102396329,
          "end": 102470384,
          "strand": "-",
          "slug": "tmem123"
        },
        {
          "symbol": "MMP7",
          "ensemblId": "ENSG00000137673",
          "biotype": "protein_coding",
          "start": 102520508,
          "end": 102530853,
          "strand": "-",
          "slug": "mmp7"
        },
        {
          "symbol": "MMP20",
          "ensemblId": "ENSG00000137674",
          "biotype": "protein_coding",
          "start": 102576832,
          "end": 102625332,
          "strand": "-",
          "slug": "mmp20"
        },
        {
          "symbol": "MMP27",
          "ensemblId": "ENSG00000137675",
          "biotype": "protein_coding",
          "start": 102691487,
          "end": 102705778,
          "strand": "-",
          "slug": "mmp27"
        },
        {
          "symbol": "MMP8",
          "ensemblId": "ENSG00000118113",
          "biotype": "protein_coding",
          "start": 102711796,
          "end": 102727050,
          "strand": "-",
          "slug": "mmp8"
        },
        {
          "symbol": "MMP10",
          "ensemblId": "ENSG00000166670",
          "biotype": "protein_coding",
          "start": 102770502,
          "end": 102780628,
          "strand": "-",
          "slug": "mmp10"
        },
        {
          "symbol": "MMP3",
          "ensemblId": "ENSG00000149968",
          "biotype": "protein_coding",
          "start": 102835801,
          "end": 102843615,
          "strand": "-",
          "slug": "mmp3"
        },
        {
          "symbol": "MMP12",
          "ensemblId": "ENSG00000262406",
          "biotype": "protein_coding",
          "start": 102862734,
          "end": 102874990,
          "strand": "-",
          "slug": "mmp12"
        },
        {
          "symbol": "MMP13",
          "ensemblId": "ENSG00000137745",
          "biotype": "protein_coding",
          "start": 102942994,
          "end": 102955740,
          "strand": "-",
          "slug": "mmp13"
        },
        {
          "symbol": "DCUN1D5",
          "ensemblId": "ENSG00000137692",
          "biotype": "protein_coding",
          "start": 103050686,
          "end": 103092203,
          "strand": "-",
          "slug": "dcun1d5"
        },
        {
          "symbol": "DYNC2H1",
          "ensemblId": "ENSG00000187240",
          "biotype": "protein_coding",
          "start": 103109351,
          "end": 103479863,
          "strand": "+",
          "slug": "dync2h1"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-blistering-of-the-skin",
        "name": "Abnormal blistering of the skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-blistering-of-the-skin"
      },
      {
        "slug": "abnormal-circulating-selenium-concentration",
        "name": "Abnormal circulating selenium concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-circulating-selenium-concentration"
      },
      {
        "slug": "abnormal-respiratory-system-morphology",
        "name": "Abnormal respiratory system morphology",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-respiratory-system-morphology"
      },
      {
        "slug": "abnormality-of-the-eye",
        "name": "Abnormality of the eye",
        "systems": [],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-eye"
      },
      {
        "slug": "abnormal-scalp-morphology",
        "name": "Abnormality of the scalp",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-scalp-morphology"
      },
      {
        "slug": "abnormality-of-vitamin-metabolism",
        "name": "Abnormality of vitamin metabolism",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-vitamin-metabolism"
      },
      {
        "slug": "aplasia-cutis-congenita",
        "name": "Absence of part of skin at birth",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aplasia-cutis-congenita"
      },
      {
        "slug": "anonychia",
        "name": "Absent nails",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anonychia"
      },
      {
        "slug": "gastroesophageal-reflux",
        "name": "Acid reflux",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gastroesophageal-reflux"
      },
      {
        "slug": "anal-fissure",
        "name": "Anal fissure",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anal-fissure"
      },
      {
        "slug": "anxiety",
        "name": "Anxiety",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anxiety"
      },
      {
        "slug": "basal-cell-carcinoma",
        "name": "Basal cell carcinoma",
        "systems": [
          "abnormality-of-the-integument",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/basal-cell-carcinoma"
      },
      {
        "slug": "chronic-cutaneous-wound",
        "name": "Chronic cutaneous wound",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chronic-cutaneous-wound"
      },
      {
        "slug": "chronic-kidney-disease",
        "name": "Chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chronic-kidney-disease"
      },
      {
        "slug": "chronic-pain",
        "name": "Chronic pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/chronic-pain"
      },
      {
        "slug": "foot-joint-contracture",
        "name": "Contractures of the foot joints",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/foot-joint-contracture"
      },
      {
        "slug": "cutaneous-melanoma",
        "name": "Cutaneous melanoma",
        "systems": [
          "abnormality-of-the-integument",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cutaneous-melanoma"
      },
      {
        "slug": "corneal-erosion",
        "name": "Damage to outer layer of the cornea of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/corneal-erosion"
      },
      {
        "slug": "decreased-plasma-total-carnitine",
        "name": "Decreased plasma total carnitine",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-plasma-total-carnitine"
      },
      {
        "slug": "decreased-serum-zinc",
        "name": "Decreased serum zinc",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-serum-zinc"
      },
      {
        "slug": "decreased-circulating-vitamin-d-concentration",
        "name": "Deficient in vitamin D",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-circulating-vitamin-d-concentration"
      },
      {
        "slug": "delayed-puberty",
        "name": "Delayed puberty",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-puberty"
      },
      {
        "slug": "carious-teeth",
        "name": "Dental cavities",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/carious-teeth"
      },
      {
        "slug": "depression",
        "name": "Depression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/depression"
      },
      {
        "slug": "erosion-of-oral-mucosa",
        "name": "Erosion of oral mucosa",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/erosion-of-oral-mucosa"
      },
      {
        "slug": "esophageal-ulceration",
        "name": "Esophagus ulcer",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/esophageal-ulceration"
      },
      {
        "slug": "flexion-contracture",
        "name": "Flexed joint that cannot be straightened",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/flexion-contracture"
      },
      {
        "slug": "fragile-skin",
        "name": "Fragile skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/fragile-skin"
      },
      {
        "slug": "gastrointestinal-inflammation",
        "name": "Gastrointestinal inflammation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/gastrointestinal-inflammation"
      },
      {
        "slug": "generalized-abnormality-of-skin",
        "name": "Generalized abnormality of skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-abnormality-of-skin"
      },
      {
        "slug": "genital-blistering",
        "name": "Genital blistering",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/genital-blistering"
      },
      {
        "slug": "glomerulonephritis",
        "name": "Glomerulonephritis",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/glomerulonephritis"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "iga-deposition-in-the-glomerulus",
        "name": "IgA deposition in the glomerulus",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/iga-deposition-in-the-glomerulus"
      },
      {
        "slug": "iron-deficiency-anemia",
        "name": "Iron deficiency anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/iron-deficiency-anemia"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "malnutrition",
        "name": "Malnutrition",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/malnutrition"
      },
      {
        "slug": "milia",
        "name": "Milk spot",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/milia"
      },
      {
        "slug": "mitten-deformity",
        "name": "Mitten deformity",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/mitten-deformity"
      },
      {
        "slug": "narrow-mouth",
        "name": "Narrow mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/narrow-mouth"
      },
      {
        "slug": "oral-mucosal-blisters",
        "name": "Oral mucosal blisters",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/oral-mucosal-blisters"
      },
      {
        "slug": "osteopenia",
        "name": "Osteopenia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/osteopenia"
      },
      {
        "slug": "osteoporosis",
        "name": "Osteoporosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/osteoporosis"
      },
      {
        "slug": "nail-dystrophy",
        "name": "Poor nail formation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nail-dystrophy"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "recurrent-skin-infections",
        "name": "Recurrent skin infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-skin-infections"
      },
      {
        "slug": "renal-amyloidosis",
        "name": "Renal amyloidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/renal-amyloidosis"
      },
      {
        "slug": "renal-insufficiency",
        "name": "Renal failure",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/renal-insufficiency"
      },
      {
        "slug": "squamous-cell-carcinoma",
        "name": "Squamous cell carcinoma",
        "systems": [
          "abnormality-of-the-integument",
          "neoplasm"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/squamous-cell-carcinoma"
      },
      {
        "slug": "dilated-cardiomyopathy",
        "name": "Stretched and thinned heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dilated-cardiomyopathy"
      },
      {
        "slug": "atrophic-scars",
        "name": "Sunken or indented skin due to damage",
        "systems": [
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/atrophic-scars"
      },
      {
        "slug": "palmoplantar-keratoderma",
        "name": "Thickening of palms and soles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/palmoplantar-keratoderma"
      },
      {
        "slug": "enamel-hypoplasia",
        "name": "Thin dental enamel",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/enamel-hypoplasia"
      },
      {
        "slug": "ankyloglossia",
        "name": "Tongue tied",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ankyloglossia"
      },
      {
        "slug": "urethral-stricture",
        "name": "Urethral stricture",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/urethral-stricture"
      },
      {
        "slug": "urinary-bladder-sphincter-dysfunction",
        "name": "Urinary bladder sphincter dysfunction",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/urinary-bladder-sphincter-dysfunction"
      },
      {
        "slug": "abnormality-of-the-urinary-system",
        "name": "Urinary tract abnormalities",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormality-of-the-urinary-system"
      },
      {
        "slug": "visual-loss",
        "name": "Visual loss",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/visual-loss"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}