{
  "url": "https://dantelabs.com/lt/genes/apoa1",
  "gene": {
    "slug": "apoa1",
    "symbol": "APOA1",
    "name": "apolipoprotein A1",
    "hgnc": "HGNC:600",
    "summary": null,
    "location": "11q23.3",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000118137",
    "entrezId": 335,
    "omim": [
      "107680"
    ],
    "uniprot": [
      "P02647"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "11",
      "start": 116835751,
      "end": 116837622,
      "strand": "-",
      "ensemblTranscript": "ENST00000236850.5",
      "refseqTranscript": "NM_000039.3",
      "ensemblProtein": "ENSP00000236850.3",
      "refseqProtein": "NP_000030.1",
      "exons": [
        {
          "start": 116835751,
          "end": 116836411
        },
        {
          "start": 116837001,
          "end": 116837157
        },
        {
          "start": 116837345,
          "end": 116837407
        },
        {
          "start": 116837605,
          "end": 116837622
        }
      ],
      "cds": {
        "start": 116835808,
        "end": 116837387
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "11",
      "start": 116706467,
      "end": 116708666,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 116336687,
      "end": 117336686,
      "genes": [
        {
          "symbol": "BUD13",
          "ensemblId": "ENSG00000137656",
          "biotype": "protein_coding",
          "start": 116748170,
          "end": 116773039,
          "strand": "-",
          "slug": "bud13"
        },
        {
          "symbol": "ZPR1",
          "ensemblId": "ENSG00000109917",
          "biotype": "protein_coding",
          "start": 116773799,
          "end": 116788477,
          "strand": "-",
          "slug": "zpr1"
        },
        {
          "symbol": "APOA5",
          "ensemblId": "ENSG00000110243",
          "biotype": "protein_coding",
          "start": 116789014,
          "end": 116793026,
          "strand": "-",
          "slug": "apoa5"
        },
        {
          "symbol": "APOA4",
          "ensemblId": "ENSG00000110244",
          "biotype": "protein_coding",
          "start": 116820700,
          "end": 116823427,
          "strand": "-",
          "slug": "apoa4"
        },
        {
          "symbol": "APOC3",
          "ensemblId": "ENSG00000110245",
          "biotype": "protein_coding",
          "start": 116827019,
          "end": 116835254,
          "strand": "+",
          "slug": "apoc3"
        },
        {
          "symbol": "SIK3",
          "ensemblId": "ENSG00000160584",
          "biotype": "protein_coding",
          "start": 116843402,
          "end": 117098463,
          "strand": "-",
          "slug": "sik3"
        },
        {
          "symbol": "PAFAH1B2",
          "ensemblId": "ENSG00000168092",
          "biotype": "protein_coding",
          "start": 117144278,
          "end": 117176894,
          "strand": "+",
          "slug": "pafah1b2"
        },
        {
          "symbol": "SIDT2",
          "ensemblId": "ENSG00000149577",
          "biotype": "protein_coding",
          "start": 117178730,
          "end": 117197452,
          "strand": "+",
          "slug": "sidt2"
        },
        {
          "symbol": "TAGLN",
          "ensemblId": "ENSG00000149591",
          "biotype": "protein_coding",
          "start": 117197509,
          "end": 117207464,
          "strand": "+",
          "slug": "tagln"
        },
        {
          "symbol": "PCSK7",
          "ensemblId": "ENSG00000160613",
          "biotype": "protein_coding",
          "start": 117202588,
          "end": 117232628,
          "strand": "-",
          "slug": "pcsk7"
        },
        {
          "symbol": "RNF214",
          "ensemblId": "ENSG00000167257",
          "biotype": "protein_coding",
          "start": 117232154,
          "end": 117287429,
          "strand": "+",
          "slug": "rnf214"
        },
        {
          "symbol": "BACE1",
          "ensemblId": "ENSG00000186318",
          "biotype": "protein_coding",
          "start": 117285232,
          "end": 117316291,
          "strand": "-",
          "slug": "bace1"
        },
        {
          "symbol": "CEP164",
          "ensemblId": "ENSG00000110274",
          "biotype": "protein_coding",
          "start": 117314557,
          "end": 117413616,
          "strand": "+",
          "slug": "cep164"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-amyloidosis-145",
        "name": "Paveldima amiloidozė",
        "diseases": [
          {
            "mondoId": "MONDO:0018634",
            "name": "Paveldima amiloidozė",
            "genes": 12,
            "inheritance": "autosomal-dominant",
            "description": "Paveldima amiloidozė – tai paveldimų ligų grupė, sudaranti vieną amiloidozės pogrupių. Paveldimai amiloidozei būdingas nenormalaus baltymo, vadinamo amiloidu, kaupimasis įvairiuose kūno organuose, kur jo neturėtų būti, dėl ko sutrinka audinių struktūra ir organų funkcijos. Paveldimos amiloidozės atveju amiloido nuosėdos dažniausiai susidaro širdies, inkstų ir nervų sistemos audiniuose. Nors paveldimos amiloidozės simptomai gali pasireikšti vaikystėje, dauguma žmonių simptomų pradeda jausti suaugusiems. \n\nYra daug paveldimos amiloidozės tipų, susijusių su skirtingomis genų mutacijomis ir nenormaliais baltymais. Dažniausias paveldimos amiloidozės tipas – transtiretino amiloidozė (ATTR), kai amiloido nuosėdas dažniausiai sudaro kepenyse gaminamas transtiretino baltymas. Kiti paveldimos amiloidozės pavyzdžiai, bet ne tik, yra apolipoproteino AI amiloidozė (A ApoAI), gelsolino amiloidozė (A Gel), lizocimo amiloidozė (A Lys), cistatino C amiloidozė (A Cys), fibrinogeno Aα grandinės amiloidozė (A Fib) ir apolipoproteino AII amiloidozė (A ApoAII).",
            "management": "Tafamidis (kinetinis stabilizatorius), patisiranas (RNR trukdymas), vutisiranas (RNR trukdymas), inotersenas (antisensas), kepenų transplantacija",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/lt/conditions/hereditary-amyloidosis-145"
      },
      {
        "slug": "hereditary-hypolipoproteinemias",
        "name": "Paveldimos hipolipoproteinemijos",
        "diseases": [
          {
            "mondoId": "MONDO:0017773",
            "name": "Hipoalfalipoproteinemija",
            "genes": 3,
            "inheritance": null,
            "description": "Apima Tangier ligą (ABCA1), LCAT trūkumą, įskaitant žuvies akies ligą, ir apolipoproteino A-I trūkumą (APOA1). Šios ligos sukelia itin mažą HDL cholesterolio kiekį ir gali sukelti ragenos drumstumą, inkstų ligas, nervų sutrikimus arba ankstyvą širdies ligą.",
            "management": "Žinojimas paaiškina labai mažus HDL rezultatus ir padeda stebėti inkstų, akių bei širdies ir kraujagyslių sveikatą.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/lt/conditions/hereditary-hypolipoproteinemias"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-circulating-lipid-concentration",
        "name": "Abnormal circulating lipid concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-lipid-concentration"
      },
      {
        "slug": "amyloid-deposition",
        "name": "Amyloid deposition",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/amyloid-deposition"
      },
      {
        "slug": "angina-pectoris",
        "name": "Angina pectoris",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/angina-pectoris"
      },
      {
        "slug": "blurred-vision",
        "name": "Blurred vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/blurred-vision"
      },
      {
        "slug": "dilatation-of-the-cerebral-artery",
        "name": "Brain aneurysm",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dilatation-of-the-cerebral-artery"
      },
      {
        "slug": "dyspnea",
        "name": "Breathing difficulty",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dyspnea"
      },
      {
        "slug": "bruising-susceptibility",
        "name": "Bruising susceptibility",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bruising-susceptibility"
      },
      {
        "slug": "cardiac-amyloidosis",
        "name": "Cardiac amyloidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cardiac-amyloidosis"
      },
      {
        "slug": "congestive-heart-failure",
        "name": "Cardiac failure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/congestive-heart-failure"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "conjunctival-amyloidosis",
        "name": "Conjunctival amyloidosis",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/conjunctival-amyloidosis"
      },
      {
        "slug": "corneal-arcus",
        "name": "Corneal arcus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/corneal-arcus"
      },
      {
        "slug": "cutaneous-amyloidosis",
        "name": "Cutaneous amyloidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cutaneous-amyloidosis"
      },
      {
        "slug": "acanthosis-nigricans",
        "name": "Darkened and thickened skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/acanthosis-nigricans"
      },
      {
        "slug": "decreased-circulating-apolipoprotein-a-i-concentration",
        "name": "Decreased circulating apolipoprotein A-I concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-apolipoprotein-a-i-concentration"
      },
      {
        "slug": "decreased-circulating-hdl-c-concentration",
        "name": "Decreased circulating high-density lipoprotein cholesterol",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-hdl-c-concentration"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "cardiomyopathy",
        "name": "Disease of the heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cardiomyopathy"
      },
      {
        "slug": "elevated-circulating-alkaline-phosphatase-concentration",
        "name": "Elevated alkaline phosphatase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-alkaline-phosphatase-concentration"
      },
      {
        "slug": "cardiomegaly",
        "name": "Enlarged heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cardiomegaly"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "xanthelasma",
        "name": "Fatty deposits in skin around the eyes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/xanthelasma"
      },
      {
        "slug": "generalized-amyloid-deposition",
        "name": "Generalized amyloid deposition",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/generalized-amyloid-deposition"
      },
      {
        "slug": "hepatic-amyloidosis",
        "name": "Hepatic amyloidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatic-amyloidosis"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "proteinuria",
        "name": "High urine protein levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/proteinuria"
      },
      {
        "slug": "hoarse-voice",
        "name": "Hoarse voice",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hoarse-voice"
      },
      {
        "slug": "infertility",
        "name": "Infertility",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/infertility"
      },
      {
        "slug": "hepatic-failure",
        "name": "Liver failure",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatic-failure"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "atherosclerosis",
        "name": "Narrowing and hardening of arteries",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/atherosclerosis"
      },
      {
        "slug": "opacification-of-the-corneal-stroma",
        "name": "Opacification of the corneal stroma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/opacification-of-the-corneal-stroma"
      },
      {
        "slug": "premature-coronary-artery-atherosclerosis",
        "name": "Premature coronary artery disease",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/premature-coronary-artery-atherosclerosis"
      },
      {
        "slug": "renal-amyloidosis",
        "name": "Renal amyloidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/renal-amyloidosis"
      },
      {
        "slug": "microscopic-hematuria",
        "name": "Small amount of blood in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/microscopic-hematuria"
      },
      {
        "slug": "stage-5-chronic-kidney-disease",
        "name": "Stage 5 chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/stage-5-chronic-kidney-disease"
      },
      {
        "slug": "tendon-xanthomatosis",
        "name": "Tendon xanthomatosis",
        "systems": [
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tendon-xanthomatosis"
      },
      {
        "slug": "xanthomatosis",
        "name": "Yellow bumps of fatty deposits on skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/xanthomatosis"
      }
    ],
    "related": [
      {
        "slug": "abca1",
        "symbol": "ABCA1",
        "name": "ATP binding cassette subfamily A member 1",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/abca1"
      },
      {
        "slug": "apoa4",
        "symbol": "APOA4",
        "name": "apolipoprotein A4",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/apoa4"
      },
      {
        "slug": "app",
        "symbol": "APP",
        "name": "amyloid beta precursor protein",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/app"
      },
      {
        "slug": "b2m",
        "symbol": "B2M",
        "name": "beta-2-microglobulin",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/b2m"
      },
      {
        "slug": "cst3",
        "symbol": "CST3",
        "name": "cystatin C",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/cst3"
      },
      {
        "slug": "fga",
        "symbol": "FGA",
        "name": "fibrinogen alpha chain",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/fga"
      },
      {
        "slug": "gpnmb",
        "symbol": "GPNMB",
        "name": "glycoprotein nmb",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/gpnmb"
      },
      {
        "slug": "gsn",
        "symbol": "GSN",
        "name": "gelsolin",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/gsn"
      },
      {
        "slug": "itm2b",
        "symbol": "ITM2B",
        "name": "integral membrane protein 2B",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/itm2b"
      },
      {
        "slug": "lcat",
        "symbol": "LCAT",
        "name": "lecithin-cholesterol acyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/lcat"
      },
      {
        "slug": "lyz",
        "symbol": "LYZ",
        "name": "lysozyme",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/lyz"
      },
      {
        "slug": "osmr",
        "symbol": "OSMR",
        "name": "oncostatin M receptor",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/osmr"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}