{
  "url": "https://dantelabs.com/pl/genes/atp8b1",
  "gene": {
    "slug": "atp8b1",
    "symbol": "ATP8B1",
    "name": "ATPase phospholipid transporting 8B1",
    "hgnc": "HGNC:3706",
    "summary": null,
    "location": "18q21.31",
    "locusType": "gene with protein product",
    "aliases": [
      "ATPIC",
      "PFIC"
    ],
    "previousSymbols": [
      "FIC1",
      "BRIC",
      "PFIC1"
    ],
    "ensemblId": "ENSG00000081923",
    "entrezId": 5205,
    "omim": [
      "602397"
    ],
    "uniprot": [
      "O43520"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "18",
      "start": 57646426,
      "end": 57803315,
      "strand": "-",
      "ensemblTranscript": "ENST00000648908.2",
      "refseqTranscript": "NM_001374385.1",
      "ensemblProtein": "ENSP00000497896.1",
      "refseqProtein": "NP_001361314.1",
      "exons": [
        {
          "start": 57646426,
          "end": 57648712
        },
        {
          "start": 57650367,
          "end": 57650497
        },
        {
          "start": 57652034,
          "end": 57652172
        },
        {
          "start": 57652484,
          "end": 57652729
        },
        {
          "start": 57653992,
          "end": 57654075
        },
        {
          "start": 57655194,
          "end": 57655417
        },
        {
          "start": 57661174,
          "end": 57661462
        },
        {
          "start": 57662483,
          "end": 57662615
        },
        {
          "start": 57667092,
          "end": 57667167
        },
        {
          "start": 57668429,
          "end": 57668540
        },
        {
          "start": 57669318,
          "end": 57669482
        },
        {
          "start": 57671468,
          "end": 57671580
        },
        {
          "start": 57674834,
          "end": 57675022
        },
        {
          "start": 57684036,
          "end": 57684192
        },
        {
          "start": 57685072,
          "end": 57685115
        },
        {
          "start": 57688299,
          "end": 57688507
        },
        {
          "start": 57691807,
          "end": 57691997
        },
        {
          "start": 57694582,
          "end": 57694670
        },
        {
          "start": 57695171,
          "end": 57695329
        },
        {
          "start": 57695450,
          "end": 57695532
        },
        {
          "start": 57697618,
          "end": 57697688
        },
        {
          "start": 57697795,
          "end": 57697867
        },
        {
          "start": 57701039,
          "end": 57701100
        },
        {
          "start": 57701215,
          "end": 57701313
        },
        {
          "start": 57704555,
          "end": 57704668
        },
        {
          "start": 57706490,
          "end": 57706587
        },
        {
          "start": 57731627,
          "end": 57731832
        },
        {
          "start": 57802998,
          "end": 57803315
        }
      ],
      "cds": {
        "start": 57648488,
        "end": 57731807
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "18",
      "start": 55313658,
      "end": 55470333,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 57224871,
      "end": 58224870,
      "genes": [
        {
          "symbol": "ST8SIA3",
          "ensemblId": "ENSG00000177511",
          "biotype": "protein_coding",
          "start": 57352430,
          "end": 57371731,
          "strand": "+",
          "slug": "st8sia3"
        },
        {
          "symbol": "ONECUT2",
          "ensemblId": "ENSG00000119547",
          "biotype": "protein_coding",
          "start": 57435374,
          "end": 57491298,
          "strand": "+",
          "slug": "onecut2"
        },
        {
          "symbol": "FECH",
          "ensemblId": "ENSG00000066926",
          "biotype": "protein_coding",
          "start": 57544377,
          "end": 57586942,
          "strand": "-",
          "slug": "fech"
        },
        {
          "symbol": "NARS1",
          "ensemblId": "ENSG00000134440",
          "biotype": "protein_coding",
          "start": 57589520,
          "end": 57622213,
          "strand": "-",
          "slug": "nars1"
        },
        {
          "symbol": "NEDD4L",
          "ensemblId": "ENSG00000049759",
          "biotype": "protein_coding",
          "start": 58043980,
          "end": 58401540,
          "strand": "+",
          "slug": "nedd4l"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "familial-intrahepatic-cholestasis",
        "name": "Rodzinna śródwątrobowa cholestaza",
        "diseases": [
          {
            "mondoId": "MONDO:0017290",
            "name": "Rodzinna śródwątrobowa cholestaza",
            "genes": 10,
            "inheritance": "autosomal-recessive",
            "description": "Przypadek śródwątrobowej cholestazy spowodowanej dziedziczną zmianą w genomie osoby.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Laboratory for Molecular Medicine",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/pl/conditions/familial-intrahepatic-cholestasis"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-pain",
        "name": "Abdominal pain",
        "systems": [
          "abnormality-of-the-digestive-system",
          "constitutional-symptom"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abdominal-pain"
      },
      {
        "slug": "abnormal-circulating-interleukin-concentration",
        "name": "Abnormal circulating interleukin concentration",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-circulating-interleukin-concentration"
      },
      {
        "slug": "abnormal-liver-function-tests-during-pregnancy",
        "name": "Abnormal liver function tests during pregnancy",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/abnormal-liver-function-tests-during-pregnancy"
      },
      {
        "slug": "abnormal-pineal-melatonin-secretion",
        "name": "Abnormal pineal melatonin secretion",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-pineal-melatonin-secretion"
      },
      {
        "slug": "abnormality-of-the-digestive-system",
        "name": "Abnormality of the digestive system",
        "systems": [],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-digestive-system"
      },
      {
        "slug": "abnormality-of-the-pancreas",
        "name": "Abnormality of the pancreas",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormality-of-the-pancreas"
      },
      {
        "slug": "ascites",
        "name": "Accumulation of fluid in the abdomen",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ascites"
      },
      {
        "slug": "asterixis",
        "name": "Asterixis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/asterixis"
      },
      {
        "slug": "autoimmunity",
        "name": "Autoimmunity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/autoimmunity"
      },
      {
        "slug": "bile-duct-proliferation",
        "name": "Bile duct proliferation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bile-duct-proliferation"
      },
      {
        "slug": "epistaxis",
        "name": "Bloody nose",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/epistaxis"
      },
      {
        "slug": "conjugated-hyperbilirubinemia",
        "name": "Conjugated hyperbilirubinemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/conjugated-hyperbilirubinemia"
      },
      {
        "slug": "depression",
        "name": "Depression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/depression"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "insomnia",
        "name": "Difficulty staying or falling asleep",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/insomnia"
      },
      {
        "slug": "elevated-circulating-alkaline-phosphatase-concentration",
        "name": "Elevated alkaline phosphatase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "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": "obligate",
        "url": "https://dantelabs.com/traits/elevated-gamma-glutamyltransferase-level"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "fat-malabsorption",
        "name": "Fat malabsorption",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/fat-malabsorption"
      },
      {
        "slug": "fetal-distress",
        "name": "Fetal distress",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "url": "https://dantelabs.com/traits/fetal-distress"
      },
      {
        "slug": "cholecystitis",
        "name": "Gallbladder inflammation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/cholecystitis"
      },
      {
        "slug": "cholelithiasis",
        "name": "Gallstones",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cholelithiasis"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "hyperbilirubinemia",
        "name": "High blood bilirubin levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperbilirubinemia"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "intrahepatic-cholestasis",
        "name": "Impaired release of bile from liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/intrahepatic-cholestasis"
      },
      {
        "slug": "increased-serum-bile-acid-concentration",
        "name": "Increased serum bile acid concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-serum-bile-acid-concentration"
      },
      {
        "slug": "increased-serum-bile-acid-concentration-during-pregnancy",
        "name": "Increased serum bile acid concentration during pregnancy",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/increased-serum-bile-acid-concentration-during-pregnancy"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "intermittent-jaundice",
        "name": "Intermittent yellow skin",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/intermittent-jaundice"
      },
      {
        "slug": "intrahepatic-cholestasis-with-episodic-jaundice",
        "name": "Intrahepatic cholestasis with episodic jaundice",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/intrahepatic-cholestasis-with-episodic-jaundice"
      },
      {
        "slug": "pruritus",
        "name": "Itching",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pruritus"
      },
      {
        "slug": "pruritus-on-foot",
        "name": "Itchy feet",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pruritus-on-foot"
      },
      {
        "slug": "palmar-pruritus",
        "name": "Itchy palm",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/palmar-pruritus"
      },
      {
        "slug": "jaundice",
        "name": "Jaundice",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/jaundice"
      },
      {
        "slug": "malabsorption",
        "name": "Malabsorption",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/malabsorption"
      },
      {
        "slug": "meconium-stained-amniotic-fluid",
        "name": "Meconium stained amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/meconium-stained-amniotic-fluid"
      },
      {
        "slug": "neonatal-respiratory-distress",
        "name": "Neonatal respiratory distress",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neonatal-respiratory-distress"
      },
      {
        "slug": "osteopenia",
        "name": "Osteopenia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/osteopenia"
      },
      {
        "slug": "pancreatitis",
        "name": "Pancreatic inflammation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/pancreatitis"
      },
      {
        "slug": "portal-fibrosis",
        "name": "Portal fibrosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/portal-fibrosis"
      },
      {
        "slug": "portal-inflammation",
        "name": "Portal inflammation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/portal-inflammation"
      },
      {
        "slug": "premature-birth",
        "name": "Premature birth",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/premature-birth"
      },
      {
        "slug": "cirrhosis",
        "name": "Scar tissue replaces healthy tissue in the liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cirrhosis"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "skin-rash",
        "name": "Skin rash",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/skin-rash"
      },
      {
        "slug": "small-for-gestational-age",
        "name": "Small for gestational age",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/small-for-gestational-age"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/tremor"
      },
      {
        "slug": "hypothyroidism",
        "name": "Underactive thyroid",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hypothyroidism"
      },
      {
        "slug": "rickets",
        "name": "Weak and soft bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/rickets"
      },
      {
        "slug": "wheezing",
        "name": "Wheezing",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/wheezing"
      }
    ],
    "related": [
      {
        "slug": "abcb11",
        "symbol": "ABCB11",
        "name": "ATP binding cassette subfamily B member 11",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/abcb11"
      },
      {
        "slug": "abcb4",
        "symbol": "ABCB4",
        "name": "ATP binding cassette subfamily B member 4",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/abcb4"
      },
      {
        "slug": "kif12",
        "symbol": "KIF12",
        "name": "kinesin family member 12",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/kif12"
      },
      {
        "slug": "myo5b",
        "symbol": "MYO5B",
        "name": "myosin VB",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/myo5b"
      },
      {
        "slug": "nr1h4",
        "symbol": "NR1H4",
        "name": "nuclear receptor subfamily 1 group H member 4",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/nr1h4"
      },
      {
        "slug": "pskh1",
        "symbol": "PSKH1",
        "name": "protein serine kinase H1",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/pskh1"
      },
      {
        "slug": "tjp2",
        "symbol": "TJP2",
        "name": "tight junction protein 2",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/tjp2"
      },
      {
        "slug": "usp53",
        "symbol": "USP53",
        "name": "ubiquitin specific peptidase 53",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/usp53"
      },
      {
        "slug": "zfyve19",
        "symbol": "ZFYVE19",
        "name": "zinc finger FYVE-type containing 19",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/zfyve19"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}