{
  "url": "https://dantelabs.com/fi/genes/krt6b",
  "gene": {
    "slug": "krt6b",
    "symbol": "KRT6B",
    "name": "keratin 6B",
    "hgnc": "HGNC:6444",
    "summary": null,
    "location": "12q13.13",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [
      "KRTL1"
    ],
    "ensemblId": "ENSG00000185479",
    "entrezId": 3854,
    "omim": [
      "148042"
    ],
    "uniprot": [
      "P04259"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "12",
      "start": 52446651,
      "end": 52452146,
      "strand": "-",
      "ensemblTranscript": "ENST00000252252.4",
      "refseqTranscript": "NM_005555.4",
      "ensemblProtein": "ENSP00000252252.3",
      "refseqProtein": "NP_005546.2",
      "exons": [
        {
          "start": 52446651,
          "end": 52447425
        },
        {
          "start": 52447539,
          "end": 52447573
        },
        {
          "start": 52447778,
          "end": 52447998
        },
        {
          "start": 52448842,
          "end": 52448967
        },
        {
          "start": 52449469,
          "end": 52449633
        },
        {
          "start": 52449758,
          "end": 52449853
        },
        {
          "start": 52450012,
          "end": 52450072
        },
        {
          "start": 52450406,
          "end": 52450620
        },
        {
          "start": 52451539,
          "end": 52452146
        }
      ],
      "cds": {
        "start": 52447190,
        "end": 52452078
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "12",
      "start": 52840435,
      "end": 52845910,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 51949399,
      "end": 52949398,
      "genes": [
        {
          "symbol": "ACVR1B",
          "ensemblId": "ENSG00000135503",
          "biotype": "protein_coding",
          "start": 51951675,
          "end": 51997082,
          "strand": "+",
          "slug": "acvr1b"
        },
        {
          "symbol": "TAMALIN",
          "ensemblId": "ENSG00000161835",
          "biotype": "protein_coding",
          "start": 52006941,
          "end": 52015893,
          "strand": "+",
          "slug": "tamalin"
        },
        {
          "symbol": "NR4A1",
          "ensemblId": "ENSG00000123358",
          "biotype": "protein_coding",
          "start": 52022832,
          "end": 52059509,
          "strand": "+",
          "slug": "nr4a1"
        },
        {
          "symbol": "ATG101",
          "ensemblId": "ENSG00000123395",
          "biotype": "protein_coding",
          "start": 52069246,
          "end": 52077495,
          "strand": "+",
          "slug": "atg101"
        },
        {
          "symbol": "SMIM41",
          "ensemblId": "ENSG00000284791",
          "biotype": "protein_coding",
          "start": 52079704,
          "end": 52108255,
          "strand": "+",
          "slug": "smim41"
        },
        {
          "symbol": "KRT80",
          "ensemblId": "ENSG00000167767",
          "biotype": "protein_coding",
          "start": 52168996,
          "end": 52192311,
          "strand": "-",
          "slug": "krt80"
        },
        {
          "symbol": "KRT7",
          "ensemblId": "ENSG00000135480",
          "biotype": "protein_coding",
          "start": 52232520,
          "end": 52252186,
          "strand": "+",
          "slug": "krt7"
        },
        {
          "symbol": "KRT86",
          "ensemblId": "ENSG00000170442",
          "biotype": "protein_coding",
          "start": 52249300,
          "end": 52309163,
          "strand": "+",
          "slug": "krt86"
        },
        {
          "symbol": "KRT81",
          "ensemblId": "ENSG00000205426",
          "biotype": "protein_coding",
          "start": 52285913,
          "end": 52291534,
          "strand": "-",
          "slug": "krt81"
        },
        {
          "symbol": "KRT83",
          "ensemblId": "ENSG00000170523",
          "biotype": "protein_coding",
          "start": 52314301,
          "end": 52321398,
          "strand": "-",
          "slug": "krt83"
        },
        {
          "symbol": "KRT85",
          "ensemblId": "ENSG00000135443",
          "biotype": "protein_coding",
          "start": 52360006,
          "end": 52367481,
          "strand": "-",
          "slug": "krt85"
        },
        {
          "symbol": "KRT84",
          "ensemblId": "ENSG00000161849",
          "biotype": "protein_coding",
          "start": 52377812,
          "end": 52385652,
          "strand": "-",
          "slug": "krt84"
        },
        {
          "symbol": "KRT82",
          "ensemblId": "ENSG00000161850",
          "biotype": "protein_coding",
          "start": 52393931,
          "end": 52406335,
          "strand": "-",
          "slug": "krt82"
        },
        {
          "symbol": "KRT75",
          "ensemblId": "ENSG00000170454",
          "biotype": "protein_coding",
          "start": 52424070,
          "end": 52434380,
          "strand": "-",
          "slug": "krt75"
        },
        {
          "symbol": "KRT6C",
          "ensemblId": "ENSG00000170465",
          "biotype": "protein_coding",
          "start": 52468516,
          "end": 52473805,
          "strand": "-",
          "slug": "krt6c"
        },
        {
          "symbol": "KRT6A",
          "ensemblId": "ENSG00000205420",
          "biotype": "protein_coding",
          "start": 52487176,
          "end": 52493265,
          "strand": "-",
          "slug": "krt6a"
        },
        {
          "symbol": "KRT5",
          "ensemblId": "ENSG00000186081",
          "biotype": "protein_coding",
          "start": 52514575,
          "end": 52520530,
          "strand": "-",
          "slug": "krt5"
        },
        {
          "symbol": "KRT71",
          "ensemblId": "ENSG00000139648",
          "biotype": "protein_coding",
          "start": 52543909,
          "end": 52553145,
          "strand": "-",
          "slug": "krt71"
        },
        {
          "symbol": "KRT74",
          "ensemblId": "ENSG00000170484",
          "biotype": "protein_coding",
          "start": 52565151,
          "end": 52573843,
          "strand": "-",
          "slug": "krt74"
        },
        {
          "symbol": "KRT72",
          "ensemblId": "ENSG00000170486",
          "biotype": "protein_coding",
          "start": 52585589,
          "end": 52601538,
          "strand": "-",
          "slug": "krt72"
        },
        {
          "symbol": "KRT73",
          "ensemblId": "ENSG00000186049",
          "biotype": "protein_coding",
          "start": 52607570,
          "end": 52618559,
          "strand": "-",
          "slug": "krt73"
        },
        {
          "symbol": "KRT2",
          "ensemblId": "ENSG00000172867",
          "biotype": "protein_coding",
          "start": 52644558,
          "end": 52652211,
          "strand": "-",
          "slug": "krt2"
        },
        {
          "symbol": "KRT1",
          "ensemblId": "ENSG00000167768",
          "biotype": "protein_coding",
          "start": 52674736,
          "end": 52680407,
          "strand": "-",
          "slug": "krt1"
        },
        {
          "symbol": "KRT77",
          "ensemblId": "ENSG00000189182",
          "biotype": "protein_coding",
          "start": 52689626,
          "end": 52703524,
          "strand": "-",
          "slug": "krt77"
        },
        {
          "symbol": "KRT76",
          "ensemblId": "ENSG00000185069",
          "biotype": "protein_coding",
          "start": 52768155,
          "end": 52777345,
          "strand": "-",
          "slug": "krt76"
        },
        {
          "symbol": "KRT3",
          "ensemblId": "ENSG00000186442",
          "biotype": "protein_coding",
          "start": 52789685,
          "end": 52796117,
          "strand": "-",
          "slug": "krt3"
        },
        {
          "symbol": "KRT4",
          "ensemblId": "ENSG00000170477",
          "biotype": "protein_coding",
          "start": 52806549,
          "end": 52814116,
          "strand": "-",
          "slug": "krt4"
        },
        {
          "symbol": "KRT79",
          "ensemblId": "ENSG00000185640",
          "biotype": "protein_coding",
          "start": 52821408,
          "end": 52834312,
          "strand": "-",
          "slug": "krt79"
        },
        {
          "symbol": "KRT78",
          "ensemblId": "ENSG00000170423",
          "biotype": "protein_coding",
          "start": 52837804,
          "end": 52849092,
          "strand": "-",
          "slug": "krt78"
        },
        {
          "symbol": "KRT8",
          "ensemblId": "ENSG00000170421",
          "biotype": "protein_coding",
          "start": 52897182,
          "end": 52949954,
          "strand": "-",
          "slug": "krt8"
        },
        {
          "symbol": "KRT18",
          "ensemblId": "ENSG00000111057",
          "biotype": "protein_coding",
          "start": 52945688,
          "end": 52952911,
          "strand": "+",
          "slug": "krt18"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-palmoplantar-keratodermas",
        "name": "Perinnölliset kämmenten ja jalkapohjien keratodermat ja pachyonychia congenita",
        "diseases": [
          {
            "mondoId": "MONDO:0019272",
            "name": "Perinnöllinen kämmenten ja jalkapohjien keratodermia",
            "genes": 35,
            "inheritance": null,
            "description": "Kämmenten ja jalkapohjien perinnöllinen paksuuntuminen, mukaan lukien pachyonychia congenita, mal de Meleda, Nagashiman tyypin ja Bothnian keratodermat, keratitis-ichthyosis-deafness-oireyhtymä sekä CTSC-geeniin liittyvät Papillon-Lefèvren ja Haim-Munkin oireyhtymät.",
            "management": "Diagnoosi ohjaa jalkojen hoitoa ja kivunhallintaa. CTSC-geeniin liittyvissä muodoissa varhainen hammashoito suojaa hampaita, ja GJB2-geeniin liittyvissä muodoissa kuulo kannattaa tarkistaa.",
            "evidence": {
              "gencc": [
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/hereditary-palmoplantar-keratodermas"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "fingernail-dysplasia",
        "name": "Abnormal fingernail development",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fingernail-dysplasia"
      },
      {
        "slug": "nail-dysplasia",
        "name": "Atypical nail growth",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/nail-dysplasia"
      },
      {
        "slug": "natal-tooth",
        "name": "Born with teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/natal-tooth"
      },
      {
        "slug": "respiratory-distress",
        "name": "Breathing difficulties",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/respiratory-distress"
      },
      {
        "slug": "dry-hair",
        "name": "Dry hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/dry-hair"
      },
      {
        "slug": "ear-pain",
        "name": "Ear pain",
        "systems": [
          "abnormality-of-the-ear",
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ear-pain"
      },
      {
        "slug": "advanced-eruption-of-teeth",
        "name": "Early eruption of teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/advanced-eruption-of-teeth"
      },
      {
        "slug": "epidermoid-cyst",
        "name": "Epidermoid cyst",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/epidermoid-cyst"
      },
      {
        "slug": "eruptive-vellus-hair-cyst",
        "name": "Eruptive vellus hair cyst",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/eruptive-vellus-hair-cyst"
      },
      {
        "slug": "palmoplantar-hyperhidrosis",
        "name": "Excessive sweating of palms and soles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/palmoplantar-hyperhidrosis"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "follicular-hyperkeratosis",
        "name": "Follicular hyperkeratosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/follicular-hyperkeratosis"
      },
      {
        "slug": "folliculitis",
        "name": "Folliculitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/folliculitis"
      },
      {
        "slug": "alopecia",
        "name": "Hair loss",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/alopecia"
      },
      {
        "slug": "hoarse-voice",
        "name": "Hoarse voice",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hoarse-voice"
      },
      {
        "slug": "hyperplastic-callus-formation",
        "name": "Hyperplastic callus formation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperplastic-callus-formation"
      },
      {
        "slug": "angular-cheilitis",
        "name": "Inflammation of corners of the mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/angular-cheilitis"
      },
      {
        "slug": "linear-arrays-of-macular-hyperkeratoses-in-flexural-areas",
        "name": "Linear arrays of macular hyperkeratoses in flexural areas",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/linear-arrays-of-macular-hyperkeratoses-in-flexural-areas"
      },
      {
        "slug": "lower-limb-pain",
        "name": "Lower limb pain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "constitutional-symptom"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/lower-limb-pain"
      },
      {
        "slug": "oral-leukoplakia",
        "name": "Oral white patch",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/oral-leukoplakia"
      },
      {
        "slug": "onychogryphosis-of-fingernail",
        "name": "Overgrowth and curving of fingernail",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/onychogryphosis-of-fingernail"
      },
      {
        "slug": "onychogryphosis-of-toenails",
        "name": "Overgrowth and curving of toenails",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/onychogryphosis-of-toenails"
      },
      {
        "slug": "palmar-hyperkeratosis",
        "name": "Palmar hyperkeratosis",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/palmar-hyperkeratosis"
      },
      {
        "slug": "palmoplantar-blistering",
        "name": "Palmoplantar blistering",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/palmoplantar-blistering"
      },
      {
        "slug": "paronychia",
        "name": "Paronychia",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/paronychia"
      },
      {
        "slug": "nail-dystrophy",
        "name": "Poor nail formation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nail-dystrophy"
      },
      {
        "slug": "cutaneous-cyst",
        "name": "Skin cyst",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cutaneous-cyst"
      },
      {
        "slug": "sparse-eyebrow",
        "name": "Sparse eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/sparse-eyebrow"
      },
      {
        "slug": "sparse-scalp-hair",
        "name": "Sparse scalp hair",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/sparse-scalp-hair"
      },
      {
        "slug": "steatocystoma-multiplex",
        "name": "Steatocystoma multiplex",
        "systems": [
          "abnormality-of-the-integument",
          "neoplasm"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/steatocystoma-multiplex"
      },
      {
        "slug": "subungual-hyperkeratosis",
        "name": "Thickened, discolored skin under nail",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/subungual-hyperkeratosis"
      },
      {
        "slug": "palmoplantar-keratoderma",
        "name": "Thickening of palms and soles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/palmoplantar-keratoderma"
      },
      {
        "slug": "palmoplantar-hyperkeratosis",
        "name": "Thickening of the outer layer of the skin of the palms and soles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/palmoplantar-hyperkeratosis"
      }
    ],
    "related": [
      {
        "slug": "aagab",
        "symbol": "AAGAB",
        "name": "alpha and gamma adaptin binding protein",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/aagab"
      },
      {
        "slug": "ap1b1",
        "symbol": "AP1B1",
        "name": "adaptor related protein complex 1 subunit beta 1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/ap1b1"
      },
      {
        "slug": "aqp5",
        "symbol": "AQP5",
        "name": "aquaporin 5",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/aqp5"
      },
      {
        "slug": "ctsc",
        "symbol": "CTSC",
        "name": "cathepsin C",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/ctsc"
      },
      {
        "slug": "dsg1",
        "symbol": "DSG1",
        "name": "desmoglein 1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/dsg1"
      },
      {
        "slug": "dsp",
        "symbol": "DSP",
        "name": "desmoplakin",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/dsp"
      },
      {
        "slug": "gja1",
        "symbol": "GJA1",
        "name": "gap junction protein alpha 1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/gja1"
      },
      {
        "slug": "gjb2",
        "symbol": "GJB2",
        "name": "gap junction protein beta 2",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/gjb2"
      },
      {
        "slug": "gjb3",
        "symbol": "GJB3",
        "name": "gap junction protein beta 3",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/gjb3"
      },
      {
        "slug": "gjb4",
        "symbol": "GJB4",
        "name": "gap junction protein beta 4",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/gjb4"
      },
      {
        "slug": "gjb6",
        "symbol": "GJB6",
        "name": "gap junction protein beta 6",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/gjb6"
      },
      {
        "slug": "grhl2",
        "symbol": "GRHL2",
        "name": "grainyhead like transcription factor 2",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/grhl2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}