{
  "url": "https://dantelabs.com/hu/genes/pcsk1",
  "gene": {
    "slug": "pcsk1",
    "symbol": "PCSK1",
    "name": "proprotein convertase subtilisin/kexin type 1",
    "hgnc": "HGNC:8743",
    "summary": null,
    "location": "5q15",
    "locusType": "gene with protein product",
    "aliases": [
      "PC1",
      "PC3",
      "SPC3",
      "PC1/3"
    ],
    "previousSymbols": [
      "NEC1"
    ],
    "ensemblId": "ENSG00000175426",
    "entrezId": 5122,
    "omim": [
      "162150"
    ],
    "uniprot": [
      "P29120"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "5",
      "start": 96390333,
      "end": 96433248,
      "strand": "-",
      "ensemblTranscript": "ENST00000311106.8",
      "refseqTranscript": "NM_000439.5",
      "ensemblProtein": "ENSP00000308024.2",
      "refseqProtein": "NP_000430.3",
      "exons": [
        {
          "start": 96390333,
          "end": 96393378
        },
        {
          "start": 96394864,
          "end": 96395025
        },
        {
          "start": 96397336,
          "end": 96397469
        },
        {
          "start": 96398879,
          "end": 96399036
        },
        {
          "start": 96399953,
          "end": 96400186
        },
        {
          "start": 96408223,
          "end": 96408323
        },
        {
          "start": 96410774,
          "end": 96410986
        },
        {
          "start": 96412318,
          "end": 96412490
        },
        {
          "start": 96416033,
          "end": 96416121
        },
        {
          "start": 96421880,
          "end": 96421956
        },
        {
          "start": 96423313,
          "end": 96423459
        },
        {
          "start": 96425820,
          "end": 96425930
        },
        {
          "start": 96429213,
          "end": 96429317
        },
        {
          "start": 96432863,
          "end": 96433248
        }
      ],
      "cds": {
        "start": 96393001,
        "end": 96433042
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "5",
      "start": 95726119,
      "end": 95769847,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 95911791,
      "end": 96911790,
      "genes": [
        {
          "symbol": "ELL2",
          "ensemblId": "ENSG00000118985",
          "biotype": "protein_coding",
          "start": 95885095,
          "end": 95961907,
          "strand": "-",
          "slug": "ell2"
        },
        {
          "symbol": "CAST",
          "ensemblId": "ENSG00000310517",
          "biotype": "protein_coding",
          "start": 96247756,
          "end": 96779595,
          "strand": "+"
        },
        {
          "symbol": "ERAP1",
          "ensemblId": "ENSG00000164307",
          "biotype": "protein_coding",
          "start": 96759649,
          "end": 96808177,
          "strand": "-",
          "slug": "erap1"
        },
        {
          "symbol": "ERAP2",
          "ensemblId": "ENSG00000164308",
          "biotype": "protein_coding",
          "start": 96875979,
          "end": 96919703,
          "strand": "+",
          "slug": "erap2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hypogonadotropic-hypogonadism",
        "name": "Hypogonadotropic Hypogonadism",
        "diseases": [
          {
            "mondoId": "MONDO:0018555",
            "name": "Hypogonadotropic Hypogonadism",
            "genes": 49,
            "inheritance": null,
            "description": "Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/hypogonadotropic-hypogonadism"
      },
      {
        "slug": "monogenic-obesity-leptin-melanocortin-pathway",
        "name": "Monogenic Obesity (Leptin-Melanocortin Pathway)",
        "diseases": [
          {
            "mondoId": "MONDO:0019182",
            "name": "Inherited obesity (leptin-melanocortin pathway)",
            "genes": 7,
            "inheritance": null,
            "description": "Early-onset severe obesity caused by single-gene defects in appetite regulation, including MC4R, SIM1 (dominant), and LEP, LEPR, POMC and PCSK1 (recessive) deficiencies.",
            "management": "Targeted medicines are available for some forms: metreleptin for leptin deficiency, and setmelanotide for POMC, PCSK1 and LEPR deficiency.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/monogenic-obesity-leptin-melanocortin-pathway"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "central-adrenal-insufficiency",
        "name": "Central adrenal insufficiency",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/central-adrenal-insufficiency"
      },
      {
        "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": "decreased-response-to-growth-hormone-stimulation-test",
        "name": "Decreased response to growth hormone stimulation test",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-response-to-growth-hormone-stimulation-test"
      },
      {
        "slug": "delayed-skeletal-maturation",
        "name": "Delayed bone maturation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-skeletal-maturation"
      },
      {
        "slug": "delayed-puberty",
        "name": "Delayed puberty",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-puberty"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "elevated-circulating-proinsulin-concentration",
        "name": "Elevated circulating proinsulin concentration",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-proinsulin-concentration"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "gonadotropin-deficiency",
        "name": "Gonadotropin deficiency",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gonadotropin-deficiency"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "hyperinsulinemia",
        "name": "Hyperinsulinemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperinsulinemia"
      },
      {
        "slug": "hypoglycemic-seizures",
        "name": "Hypoglycemic seizures",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoglycemic-seizures"
      },
      {
        "slug": "hypogonadotropic-hypogonadism",
        "name": "Hypogonadotropic hypogonadism",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypogonadotropic-hypogonadism"
      },
      {
        "slug": "hypoinsulinemia",
        "name": "Hypoinsulinemia",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoinsulinemia"
      },
      {
        "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": "decreased-circulating-cortisol-level",
        "name": "Low blood cortisol level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-cortisol-level"
      },
      {
        "slug": "reactive-hypoglycemia",
        "name": "Low blood sugar after a meal",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/reactive-hypoglycemia"
      },
      {
        "slug": "pituitary-hypothyroidism",
        "name": "Low thyroid gland function due to abnormal pituitary gland",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pituitary-hypothyroidism"
      },
      {
        "slug": "malabsorption",
        "name": "Malabsorption",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/malabsorption"
      },
      {
        "slug": "obesity",
        "name": "Obesity",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/obesity"
      },
      {
        "slug": "hypopigmentation-of-the-skin",
        "name": "Patchy lightened skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypopigmentation-of-the-skin"
      },
      {
        "slug": "primary-amenorrhea",
        "name": "Primary amenorrhea",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/primary-amenorrhea"
      },
      {
        "slug": "red-hair",
        "name": "Red hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/red-hair"
      },
      {
        "slug": "cholestasis",
        "name": "Slowed or blocked flow of bile from liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cholestasis"
      },
      {
        "slug": "villous-atrophy",
        "name": "Villous atrophy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/villous-atrophy"
      }
    ],
    "related": [
      {
        "slug": "lep",
        "symbol": "LEP",
        "name": "leptin",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/lep"
      },
      {
        "slug": "lepr",
        "symbol": "LEPR",
        "name": "leptin receptor",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/lepr"
      },
      {
        "slug": "anos1",
        "symbol": "ANOS1",
        "name": "anosmin 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/anos1"
      },
      {
        "slug": "arhgap35",
        "symbol": "ARHGAP35",
        "name": "Rho GTPase activating protein 35",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/arhgap35"
      },
      {
        "slug": "cep19",
        "symbol": "CEP19",
        "name": "centrosomal protein 19",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cep19"
      },
      {
        "slug": "chd7",
        "symbol": "CHD7",
        "name": "chromodomain helicase DNA binding protein 7",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/chd7"
      },
      {
        "slug": "cpe",
        "symbol": "CPE",
        "name": "carboxypeptidase E",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cpe"
      },
      {
        "slug": "dcaf17",
        "symbol": "DCAF17",
        "name": "DDB1 and CUL4 associated factor 17",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/dcaf17"
      },
      {
        "slug": "fezf1",
        "symbol": "FEZF1",
        "name": "FEZ family zinc finger 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/fezf1"
      },
      {
        "slug": "fgf17",
        "symbol": "FGF17",
        "name": "fibroblast growth factor 17",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/fgf17"
      },
      {
        "slug": "fgf8",
        "symbol": "FGF8",
        "name": "fibroblast growth factor 8",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/fgf8"
      },
      {
        "slug": "fgfr1",
        "symbol": "FGFR1",
        "name": "fibroblast growth factor receptor 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/fgfr1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}