{
  "url": "https://dantelabs.com/fi/genes/mc4r",
  "gene": {
    "slug": "mc4r",
    "symbol": "MC4R",
    "name": "melanocortin 4 receptor",
    "hgnc": "HGNC:6932",
    "summary": null,
    "location": "18q21.32",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000166603",
    "entrezId": 4160,
    "omim": [
      "155541"
    ],
    "uniprot": [
      "P32245"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "18",
      "start": 60371062,
      "end": 60372775,
      "strand": "-",
      "ensemblTranscript": "ENST00000299766.5",
      "refseqTranscript": "NM_005912.3",
      "ensemblProtein": "ENSP00000299766.3",
      "refseqProtein": "NP_005903.2",
      "exons": [
        {
          "start": 60371062,
          "end": 60372775
        }
      ],
      "cds": {
        "start": 60371351,
        "end": 60372349
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "18",
      "start": 58038564,
      "end": 58040001,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 59871919,
      "end": 60871918,
      "genes": [
        {
          "symbol": "PMAIP1",
          "ensemblId": "ENSG00000141682",
          "biotype": "protein_coding",
          "start": 59899644,
          "end": 59904305,
          "strand": "+",
          "slug": "pmaip1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "monogenic-obesity-leptin-melanocortin-pathway",
        "name": "Monogeeninen lihavuus (leptiini-melanokortiinireitti)",
        "diseases": [
          {
            "mondoId": "MONDO:0019182",
            "name": "Perinnöllinen lihavuus (leptiini-melanokortiinireitti)",
            "genes": 7,
            "inheritance": null,
            "description": "Varhain alkava vaikea lihavuus, joka johtuu ruokahalun säätelyn yhden geenin häiriöistä, mukaan lukien MC4R ja SIM1 (dominantti) sekä LEP, LEPR, POMC ja PCSK1 (resessiivinen) puutokset.",
            "management": "Joihinkin muotoihin on saatavilla kohdennettuja lääkkeitä: metreleptiiniä leptiinipuutokseen ja setmelanotidia POMC-, PCSK1- ja LEPR-puutokseen.",
            "evidence": {
              "gencc": [
                "Laboratory for Molecular Medicine",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/monogenic-obesity-leptin-melanocortin-pathway"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "accelerated-skeletal-maturation",
        "name": "Advanced bone age",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/accelerated-skeletal-maturation"
      },
      {
        "slug": "childhood-onset-truncal-obesity",
        "name": "Childhood-onset truncal obesity",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/childhood-onset-truncal-obesity"
      },
      {
        "slug": "acanthosis-nigricans",
        "name": "Darkened and thickened skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/acanthosis-nigricans"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "hyperinsulinemia",
        "name": "Hyperinsulinemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperinsulinemia"
      },
      {
        "slug": "increased-adipose-tissue",
        "name": "Increased adipose tissue",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-adipose-tissue"
      },
      {
        "slug": "polyphagia",
        "name": "Increased appetite",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/polyphagia"
      },
      {
        "slug": "increased-bone-mineral-density",
        "name": "Increased bone mineral density",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/increased-bone-mineral-density"
      },
      {
        "slug": "hypertriglyceridemia",
        "name": "Increased plasma triglycerides",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertriglyceridemia"
      },
      {
        "slug": "type-ii-diabetes-mellitus",
        "name": "Noninsulin-dependent diabetes",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/type-ii-diabetes-mellitus"
      },
      {
        "slug": "obesity",
        "name": "Obesity",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/obesity"
      },
      {
        "slug": "tall-stature",
        "name": "Tall stature",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/tall-stature"
      }
    ],
    "related": [
      {
        "slug": "cep19",
        "symbol": "CEP19",
        "name": "centrosomal protein 19",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/cep19"
      },
      {
        "slug": "lep",
        "symbol": "LEP",
        "name": "leptin",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/lep"
      },
      {
        "slug": "lepr",
        "symbol": "LEPR",
        "name": "leptin receptor",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/lepr"
      },
      {
        "slug": "pcsk1",
        "symbol": "PCSK1",
        "name": "proprotein convertase subtilisin/kexin type 1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/pcsk1"
      },
      {
        "slug": "pomc",
        "symbol": "POMC",
        "name": "proopiomelanocortin",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/pomc"
      },
      {
        "slug": "sim1",
        "symbol": "SIM1",
        "name": "SIM bHLH transcription factor 1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/sim1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}