{
  "url": "https://dantelabs.com/sv/genes/apoa4",
  "gene": {
    "slug": "apoa4",
    "symbol": "APOA4",
    "name": "apolipoprotein A4",
    "hgnc": "HGNC:602",
    "summary": null,
    "location": "11q23.3",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000110244",
    "entrezId": 337,
    "omim": [
      "107690"
    ],
    "uniprot": [
      "P06727"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "11",
      "start": 116820700,
      "end": 116823304,
      "strand": "-",
      "ensemblTranscript": "ENST00000357780.5",
      "refseqTranscript": "NM_000482.4",
      "ensemblProtein": "ENSP00000350425.3",
      "refseqProtein": "NP_000473.2",
      "exons": [
        {
          "start": 116820700,
          "end": 116821881
        },
        {
          "start": 116822659,
          "end": 116822785
        },
        {
          "start": 116823143,
          "end": 116823304
        }
      ],
      "cds": {
        "start": 116820867,
        "end": 116823191
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "11",
      "start": 116691419,
      "end": 116694022,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 116322002,
      "end": 117322001,
      "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": "APOC3",
          "ensemblId": "ENSG00000110245",
          "biotype": "protein_coding",
          "start": 116827019,
          "end": 116835254,
          "strand": "+",
          "slug": "apoc3"
        },
        {
          "symbol": "APOA1",
          "ensemblId": "ENSG00000118137",
          "biotype": "protein_coding",
          "start": 116834677,
          "end": 116842065,
          "strand": "-",
          "slug": "apoa1"
        },
        {
          "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": "Hereditär amyloidos",
        "diseases": [
          {
            "mondoId": "MONDO:0018634",
            "name": "Hereditär amyloidos",
            "genes": 12,
            "inheritance": "autosomal-dominant",
            "description": "Hereditär amyloidos är en grupp ärftliga tillstånd som utgör en av undertyperna av amyloidos. Hereditär amyloidos kännetecknas av att ett onormalt protein som kallas amyloid avsätts i flera organ i kroppen, där det inte ska finnas, vilket stör vävnadens struktur och organens funktion. Vid hereditär amyloidos uppstår amyloidavlagringar oftast i hjärtat, njurarna och nervsystemet. Symtom vid hereditär amyloidos kan visa sig redan i barndomen, men de flesta får inga symtom förrän i vuxen ålder. \n\nDet finns många typer av hereditär amyloidos, kopplade till olika genmutationer och onormala proteiner. Den vanligaste typen är transtyretinamyloidos (ATTR), ett tillstånd där amyloidavlagringarna oftast består av proteinet transtyretin, som bildas i levern. Andra exempel på hereditär amyloidos är, men inte uteslutande, apolipoprotein AI-amyloidos (A ApoAI), gelsolinamyloidos (A Gel), lysozymamyloidos (A Lys), cystatin C-amyloidos (A Cys), fibrinogen Aα-kedjeamyloidos (A Fib) och apolipoprotein AII-amyloidos (A ApoAII). ",
            "management": "Tafamidis (kinetisk stabilisator), patisiran (RNAi), vutrisiran (RNAi), inotersen (antisens), levertransplantation",
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/hereditary-amyloidosis-145"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-bowman-capsule-morphology",
        "name": "Abnormal Bowman capsule morphology",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormal-bowman-capsule-morphology"
      },
      {
        "slug": "chronic-kidney-disease",
        "name": "Chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/chronic-kidney-disease"
      },
      {
        "slug": "decreased-glomerular-filtration-rate",
        "name": "Decreased glomerular filtration rate",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-glomerular-filtration-rate"
      },
      {
        "slug": "hypercholesterolemia",
        "name": "Elevated serum cholesterol",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypercholesterolemia"
      },
      {
        "slug": "glomerular-basement-membrane-wrinkling",
        "name": "Glomerular basement membrane wrinkling",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/glomerular-basement-membrane-wrinkling"
      },
      {
        "slug": "glomerular-sclerosis",
        "name": "Glomerular sclerosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/glomerular-sclerosis"
      },
      {
        "slug": "gout",
        "name": "Gout",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/gout"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "renal-interstitial-fibrosis",
        "name": "Renal interstitial fibrosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renal-interstitial-fibrosis"
      },
      {
        "slug": "renal-interstitial-inflammation",
        "name": "Renal interstitial inflammation",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renal-interstitial-inflammation"
      },
      {
        "slug": "renal-tubular-atrophy",
        "name": "Renal tubular atrophy",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/renal-tubular-atrophy"
      },
      {
        "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"
      }
    ],
    "related": [
      {
        "slug": "apoa1",
        "symbol": "APOA1",
        "name": "apolipoprotein A1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/apoa1"
      },
      {
        "slug": "app",
        "symbol": "APP",
        "name": "amyloid beta precursor protein",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/app"
      },
      {
        "slug": "b2m",
        "symbol": "B2M",
        "name": "beta-2-microglobulin",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/b2m"
      },
      {
        "slug": "cst3",
        "symbol": "CST3",
        "name": "cystatin C",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/cst3"
      },
      {
        "slug": "fga",
        "symbol": "FGA",
        "name": "fibrinogen alpha chain",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/fga"
      },
      {
        "slug": "gpnmb",
        "symbol": "GPNMB",
        "name": "glycoprotein nmb",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/gpnmb"
      },
      {
        "slug": "gsn",
        "symbol": "GSN",
        "name": "gelsolin",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/gsn"
      },
      {
        "slug": "itm2b",
        "symbol": "ITM2B",
        "name": "integral membrane protein 2B",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/itm2b"
      },
      {
        "slug": "lyz",
        "symbol": "LYZ",
        "name": "lysozyme",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/lyz"
      },
      {
        "slug": "osmr",
        "symbol": "OSMR",
        "name": "oncostatin M receptor",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/osmr"
      },
      {
        "slug": "ttr",
        "symbol": "TTR",
        "name": "transthyretin",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/ttr"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}