{
  "url": "https://dantelabs.com/pl/genes/mmel1",
  "gene": {
    "slug": "mmel1",
    "symbol": "MMEL1",
    "name": "membrane metalloendopeptidase like 1",
    "hgnc": "HGNC:14668",
    "summary": null,
    "location": "1p36.32",
    "locusType": "gene with protein product",
    "aliases": [
      "SEP",
      "NL1",
      "NL2",
      "NEPII"
    ],
    "previousSymbols": [
      "MMEL2"
    ],
    "ensemblId": "ENSG00000142606",
    "entrezId": 79258,
    "omim": [
      "618104"
    ],
    "uniprot": [
      "Q495T6"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 2590639,
      "end": 2633016,
      "strand": "-",
      "ensemblTranscript": "ENST00000378412.8",
      "refseqTranscript": "NM_033467.4",
      "ensemblProtein": "ENSP00000367668.3",
      "refseqProtein": "NP_258428.2",
      "exons": [
        {
          "start": 2590639,
          "end": 2591089
        },
        {
          "start": 2591557,
          "end": 2591633
        },
        {
          "start": 2591932,
          "end": 2592027
        },
        {
          "start": 2592655,
          "end": 2592720
        },
        {
          "start": 2592833,
          "end": 2592966
        },
        {
          "start": 2593814,
          "end": 2593933
        },
        {
          "start": 2594385,
          "end": 2594443
        },
        {
          "start": 2594790,
          "end": 2594893
        },
        {
          "start": 2595276,
          "end": 2595359
        },
        {
          "start": 2596009,
          "end": 2596107
        },
        {
          "start": 2596561,
          "end": 2596689
        },
        {
          "start": 2598207,
          "end": 2598300
        },
        {
          "start": 2598654,
          "end": 2598790
        },
        {
          "start": 2603884,
          "end": 2603973
        },
        {
          "start": 2604147,
          "end": 2604281
        },
        {
          "start": 2605558,
          "end": 2605623
        },
        {
          "start": 2606248,
          "end": 2606366
        },
        {
          "start": 2606974,
          "end": 2607069
        },
        {
          "start": 2609339,
          "end": 2609419
        },
        {
          "start": 2609670,
          "end": 2609831
        },
        {
          "start": 2611281,
          "end": 2611340
        },
        {
          "start": 2612127,
          "end": 2612204
        },
        {
          "start": 2629331,
          "end": 2629521
        },
        {
          "start": 2632866,
          "end": 2633016
        }
      ],
      "cds": {
        "start": 2590990,
        "end": 2629484
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 2522078,
      "end": 2564481,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 2111828,
      "end": 3111827,
      "genes": [
        {
          "symbol": "PRKCZ",
          "ensemblId": "ENSG00000067606",
          "biotype": "protein_coding",
          "start": 2050396,
          "end": 2185721,
          "strand": "+",
          "slug": "prkcz"
        },
        {
          "symbol": "FAAP20",
          "ensemblId": "ENSG00000162585",
          "biotype": "protein_coding",
          "start": 2184411,
          "end": 2212720,
          "strand": "-",
          "slug": "faap20"
        },
        {
          "symbol": "SKI",
          "ensemblId": "ENSG00000157933",
          "biotype": "protein_coding",
          "start": 2227388,
          "end": 2310213,
          "strand": "+",
          "slug": "ski"
        },
        {
          "symbol": "MORN1",
          "ensemblId": "ENSG00000116151",
          "biotype": "protein_coding",
          "start": 2319208,
          "end": 2391722,
          "strand": "-",
          "slug": "morn1"
        },
        {
          "symbol": "RER1",
          "ensemblId": "ENSG00000157916",
          "biotype": "protein_coding",
          "start": 2390670,
          "end": 2405444,
          "strand": "+",
          "slug": "rer1"
        },
        {
          "symbol": "PEX10",
          "ensemblId": "ENSG00000157911",
          "biotype": "protein_coding",
          "start": 2403784,
          "end": 2413797,
          "strand": "-",
          "slug": "pex10"
        },
        {
          "symbol": "PLCH2",
          "ensemblId": "ENSG00000149527",
          "biotype": "protein_coding",
          "start": 2425980,
          "end": 2505807,
          "strand": "+",
          "slug": "plch2"
        },
        {
          "symbol": "PANK4",
          "ensemblId": "ENSG00000157881",
          "biotype": "protein_coding",
          "start": 2508531,
          "end": 2526617,
          "strand": "-",
          "slug": "pank4"
        },
        {
          "symbol": "HES5",
          "ensemblId": "ENSG00000197921",
          "biotype": "protein_coding",
          "start": 2528745,
          "end": 2530271,
          "strand": "-",
          "slug": "hes5"
        },
        {
          "symbol": "TNFRSF14",
          "ensemblId": "ENSG00000157873",
          "biotype": "protein_coding",
          "start": 2554244,
          "end": 2565382,
          "strand": "+",
          "slug": "tnfrsf14"
        },
        {
          "symbol": "PRXL2B",
          "ensemblId": "ENSG00000157870",
          "biotype": "protein_coding",
          "start": 2586491,
          "end": 2591470,
          "strand": "+",
          "slug": "prxl2b"
        },
        {
          "symbol": "TTC34",
          "ensemblId": "ENSG00000215912",
          "biotype": "protein_coding",
          "start": 2636986,
          "end": 2801693,
          "strand": "-",
          "slug": "ttc34"
        },
        {
          "symbol": "ACTRT2",
          "ensemblId": "ENSG00000169717",
          "biotype": "protein_coding",
          "start": 3021467,
          "end": 3022903,
          "strand": "+",
          "slug": "actrt2"
        },
        {
          "symbol": "PRDM16",
          "ensemblId": "ENSG00000142611",
          "biotype": "protein_coding",
          "start": 3069003,
          "end": 3438621,
          "strand": "+",
          "slug": "prdm16"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-distention",
        "name": "Abdominal bloating",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abdominal-distention"
      },
      {
        "slug": "abnormal-circulating-lipid-concentration",
        "name": "Abnormal circulating lipid concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-lipid-concentration"
      },
      {
        "slug": "abnormal-intrahepatic-bile-duct-morphology",
        "name": "Abnormal intrahepatic bile duct morphology",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-intrahepatic-bile-duct-morphology"
      },
      {
        "slug": "abnormality-of-the-thyroid-gland",
        "name": "Abnormality of the thyroid gland",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-thyroid-gland"
      },
      {
        "slug": "ascites",
        "name": "Accumulation of fluid in the abdomen",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ascites"
      },
      {
        "slug": "antimitochondrial-antibody-positivity",
        "name": "Antimitochondrial antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/antimitochondrial-antibody-positivity"
      },
      {
        "slug": "antinuclear-antibody-positivity",
        "name": "Antinuclear antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/antinuclear-antibody-positivity"
      },
      {
        "slug": "autoimmunity",
        "name": "Autoimmunity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/autoimmunity"
      },
      {
        "slug": "biliary-cirrhosis",
        "name": "Biliary cirrhosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/biliary-cirrhosis"
      },
      {
        "slug": "celiac-disease",
        "name": "Celiac disease",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/celiac-disease"
      },
      {
        "slug": "conjugated-hyperbilirubinemia",
        "name": "Conjugated hyperbilirubinemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/conjugated-hyperbilirubinemia"
      },
      {
        "slug": "orthostatic-hypotension",
        "name": "Decrease in blood pressure upon standing up",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/orthostatic-hypotension"
      },
      {
        "slug": "sleep-disturbance",
        "name": "Difficulty sleeping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sleep-disturbance"
      },
      {
        "slug": "elevated-circulating-alkaline-phosphatase-concentration",
        "name": "Elevated alkaline phosphatase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-alkaline-phosphatase-concentration"
      },
      {
        "slug": "elevated-gamma-glutamyltransferase-level",
        "name": "Elevated gamma-glutamyltransferase level",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-gamma-glutamyltransferase-level"
      },
      {
        "slug": "hypercholesterolemia",
        "name": "Elevated serum cholesterol",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypercholesterolemia"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "esophageal-varix",
        "name": "Enlarged vein in esophagus",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/esophageal-varix"
      },
      {
        "slug": "excessive-daytime-somnolence",
        "name": "Excessive daytime sleepiness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/excessive-daytime-somnolence"
      },
      {
        "slug": "steatorrhea",
        "name": "Fat in feces",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/steatorrhea"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "xanthelasma",
        "name": "Fatty deposits in skin around the eyes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/xanthelasma"
      },
      {
        "slug": "gastrointestinal-inflammation",
        "name": "Gastrointestinal inflammation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/gastrointestinal-inflammation"
      },
      {
        "slug": "hepatic-encephalopathy",
        "name": "Hepatic encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatic-encephalopathy"
      },
      {
        "slug": "hepatic-fibrosis",
        "name": "Hepatic fibrosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatic-fibrosis"
      },
      {
        "slug": "hepatocellular-carcinoma",
        "name": "Hepatocellular carcinoma",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatocellular-carcinoma"
      },
      {
        "slug": "increased-circulating-iga-concentration",
        "name": "Increased circulating IgA concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-circulating-iga-concentration"
      },
      {
        "slug": "increased-circulating-igm-concentration",
        "name": "Increased circulating IgM concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-igm-concentration"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "pruritus",
        "name": "Itching",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pruritus"
      },
      {
        "slug": "jaundice",
        "name": "Jaundice",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/jaundice"
      },
      {
        "slug": "hepatic-failure",
        "name": "Liver failure",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatic-failure"
      },
      {
        "slug": "hepatitis",
        "name": "Liver inflammation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatitis"
      },
      {
        "slug": "hypoalbuminemia",
        "name": "Low albumin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoalbuminemia"
      },
      {
        "slug": "osteoporosis",
        "name": "Osteoporosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/osteoporosis"
      },
      {
        "slug": "hyperpigmentation-of-the-skin",
        "name": "Patchy darkened skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperpigmentation-of-the-skin"
      },
      {
        "slug": "portal-hypertension",
        "name": "Portal hypertension",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/portal-hypertension"
      },
      {
        "slug": "recurrent-fungal-infections",
        "name": "Recurrent fungal infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-fungal-infections"
      },
      {
        "slug": "cirrhosis",
        "name": "Scar tissue replaces healthy tissue in the liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cirrhosis"
      },
      {
        "slug": "dermatographic-urticaria",
        "name": "Skin writing",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/dermatographic-urticaria"
      },
      {
        "slug": "unusual-fungal-nail-infection",
        "name": "Unusual fungal nail infection",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/unusual-fungal-nail-infection"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}