{
  "url": "https://dantelabs.com/fr/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": "Hypogonadisme hypogonadotrope",
        "diseases": [
          {
            "mondoId": "MONDO:0018555",
            "name": "Hypogonadisme hypogonadotrope",
            "genes": 49,
            "inheritance": null,
            "description": "Fonctionnement ovarien ou testiculaire anormal dû à une stimulation hormonale insuffisante issue de l'axe hypothalamo-hypophysaire.",
            "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/fr/conditions/hypogonadotropic-hypogonadism"
      },
      {
        "slug": "monogenic-obesity-leptin-melanocortin-pathway",
        "name": "Obésité monogénique (voie leptine-mélanocortine)",
        "diseases": [
          {
            "mondoId": "MONDO:0019182",
            "name": "Obésité héréditaire (voie leptine-mélanocortine)",
            "genes": 7,
            "inheritance": null,
            "description": "Obésité sévère de survenue précoce causée par des défauts d'un seul gène dans la régulation de l'appétit, notamment des déficits en MC4R, SIM1 (dominant), ainsi qu'en LEP, LEPR, POMC et PCSK1 (récessif).",
            "management": "Des traitements ciblés sont disponibles pour certaines formes : la métréleptine pour le déficit en leptine, et la setmélanotide pour les déficits en POMC, PCSK1 et LEPR.",
            "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/fr/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/fr/genes/lep"
      },
      {
        "slug": "lepr",
        "symbol": "LEPR",
        "name": "leptin receptor",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/lepr"
      },
      {
        "slug": "anos1",
        "symbol": "ANOS1",
        "name": "anosmin 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/anos1"
      },
      {
        "slug": "arhgap35",
        "symbol": "ARHGAP35",
        "name": "Rho GTPase activating protein 35",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/arhgap35"
      },
      {
        "slug": "cep19",
        "symbol": "CEP19",
        "name": "centrosomal protein 19",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/cep19"
      },
      {
        "slug": "chd7",
        "symbol": "CHD7",
        "name": "chromodomain helicase DNA binding protein 7",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/chd7"
      },
      {
        "slug": "cpe",
        "symbol": "CPE",
        "name": "carboxypeptidase E",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/cpe"
      },
      {
        "slug": "dcaf17",
        "symbol": "DCAF17",
        "name": "DDB1 and CUL4 associated factor 17",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/dcaf17"
      },
      {
        "slug": "fezf1",
        "symbol": "FEZF1",
        "name": "FEZ family zinc finger 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/fezf1"
      },
      {
        "slug": "fgf17",
        "symbol": "FGF17",
        "name": "fibroblast growth factor 17",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/fgf17"
      },
      {
        "slug": "fgf8",
        "symbol": "FGF8",
        "name": "fibroblast growth factor 8",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/fgf8"
      },
      {
        "slug": "fgfr1",
        "symbol": "FGFR1",
        "name": "fibroblast growth factor receptor 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/fgfr1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}