{
  "url": "https://dantelabs.com/pt/genes/lyz",
  "gene": {
    "slug": "lyz",
    "symbol": "LYZ",
    "name": "lysozyme",
    "hgnc": "HGNC:6740",
    "summary": null,
    "location": "12q15",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000090382",
    "entrezId": 4069,
    "omim": [
      "153450"
    ],
    "uniprot": [
      "P61626"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "12",
      "start": 69348381,
      "end": 69354234,
      "strand": "+",
      "ensemblTranscript": "ENST00000261267.7",
      "refseqTranscript": "NM_000239.3",
      "ensemblProtein": "ENSP00000261267.2",
      "refseqProtein": "NP_000230.1",
      "exons": [
        {
          "start": 69348381,
          "end": 69348544
        },
        {
          "start": 69350108,
          "end": 69350272
        },
        {
          "start": 69352220,
          "end": 69352298
        },
        {
          "start": 69353153,
          "end": 69354234
        }
      ],
      "cds": {
        "start": 69348409,
        "end": 69353219
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "12",
      "start": 69742121,
      "end": 69748014,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 68851308,
      "end": 69851307,
      "genes": [
        {
          "symbol": "CPM",
          "ensemblId": "ENSG00000135678",
          "biotype": "protein_coding",
          "start": 68842192,
          "end": 68971570,
          "strand": "-",
          "slug": "cpm"
        },
        {
          "symbol": "CPSF6",
          "ensemblId": "ENSG00000111605",
          "biotype": "protein_coding",
          "start": 69239543,
          "end": 69279829,
          "strand": "+",
          "slug": "cpsf6"
        },
        {
          "symbol": "YEATS4",
          "ensemblId": "ENSG00000127337",
          "biotype": "protein_coding",
          "start": 69359669,
          "end": 69398005,
          "strand": "+",
          "slug": "yeats4"
        },
        {
          "symbol": "FRS2",
          "ensemblId": "ENSG00000166225",
          "biotype": "protein_coding",
          "start": 69470349,
          "end": 69579793,
          "strand": "+",
          "slug": "frs2"
        },
        {
          "symbol": "CCT2",
          "ensemblId": "ENSG00000166226",
          "biotype": "protein_coding",
          "start": 69585423,
          "end": 69601580,
          "strand": "+",
          "slug": "cct2"
        },
        {
          "symbol": "LRRC10",
          "ensemblId": "ENSG00000198812",
          "biotype": "protein_coding",
          "start": 69608564,
          "end": 69610907,
          "strand": "-",
          "slug": "lrrc10"
        },
        {
          "symbol": "BEST3",
          "ensemblId": "ENSG00000127325",
          "biotype": "protein_coding",
          "start": 69643360,
          "end": 69699476,
          "strand": "-",
          "slug": "best3"
        },
        {
          "symbol": "RAB3IP",
          "ensemblId": "ENSG00000127328",
          "biotype": "protein_coding",
          "start": 69738785,
          "end": 69823204,
          "strand": "+",
          "slug": "rab3ip"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000258052",
          "biotype": "protein_coding",
          "start": 69801669,
          "end": 69855363,
          "strand": "+"
        },
        {
          "symbol": "MYRFL",
          "ensemblId": "ENSG00000166268",
          "biotype": "protein_coding",
          "start": 69825222,
          "end": 69959097,
          "strand": "+",
          "slug": "myrfl"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-amyloidosis-145",
        "name": "Amiloidose Hereditária",
        "diseases": [
          {
            "mondoId": "MONDO:0018634",
            "name": "Amiloidose Hereditária",
            "genes": 12,
            "inheritance": "autosomal-dominant",
            "description": "A amiloidose hereditária refere-se a um grupo de condições hereditárias que constituem um dos subtipos de amiloidose. A amiloidose hereditária caracteriza-se pelo depósito de uma proteína anormal denominada amiloide em múltiplos órgãos do corpo onde não deveria existir, o que provoca a perturbação da estrutura e da função dos tecidos dos órgãos. Na amiloidose hereditária, os depósitos de amiloide ocorrem com mais frequência nos tecidos do coração, dos rins e do sistema nervoso. Embora os sintomas da amiloidose hereditária possam surgir na infância, a maioria dos indivíduos só apresenta sintomas na idade adulta. \n\nExistem muitos tipos de amiloidose hereditária associados a diferentes mutações genéticas e proteínas anormais. O tipo mais comum é a amiloidose por transtirretina (ATTR), uma condição em que os depósitos de amiloide são constituídos, na maioria das vezes, pela proteína transtirretina, produzida no fígado. Outros exemplos de amiloidose hereditária incluem, entre outros, a amiloidose por apolipoproteína AI (A ApoAI), a amiloidose por gelsolina (A Gel), a amiloidose por lisozima (A Lys), a amiloidose por cistatina C (A Cys), a amiloidose por cadeia Aα do fibrinogénio (A Fib) e a amiloidose por apolipoproteína AII (A ApoAII). ",
            "management": "Tafamidis (estabilizador cinético), patisiran (RNAi), vutrisiran (RNAi), inotersen (antissentido), transplante hepático",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/pt/conditions/hereditary-amyloidosis-145"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "amyloid-deposition",
        "name": "Amyloid deposition",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/amyloid-deposition"
      },
      {
        "slug": "congestive-heart-failure",
        "name": "Cardiac failure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/congestive-heart-failure"
      },
      {
        "slug": "keratoconjunctivitis-sicca",
        "name": "Dry eye syndrome",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/keratoconjunctivitis-sicca"
      },
      {
        "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": "frequent",
        "url": "https://dantelabs.com/traits/proteinuria"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "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": "renal-insufficiency",
        "name": "Renal failure",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/renal-insufficiency"
      },
      {
        "slug": "stage-5-chronic-kidney-disease",
        "name": "Stage 5 chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/stage-5-chronic-kidney-disease"
      }
    ],
    "related": [
      {
        "slug": "apoa1",
        "symbol": "APOA1",
        "name": "apolipoprotein A1",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/apoa1"
      },
      {
        "slug": "apoa4",
        "symbol": "APOA4",
        "name": "apolipoprotein A4",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/apoa4"
      },
      {
        "slug": "app",
        "symbol": "APP",
        "name": "amyloid beta precursor protein",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/app"
      },
      {
        "slug": "b2m",
        "symbol": "B2M",
        "name": "beta-2-microglobulin",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/b2m"
      },
      {
        "slug": "cst3",
        "symbol": "CST3",
        "name": "cystatin C",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/cst3"
      },
      {
        "slug": "fga",
        "symbol": "FGA",
        "name": "fibrinogen alpha chain",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/fga"
      },
      {
        "slug": "gpnmb",
        "symbol": "GPNMB",
        "name": "glycoprotein nmb",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/gpnmb"
      },
      {
        "slug": "gsn",
        "symbol": "GSN",
        "name": "gelsolin",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/gsn"
      },
      {
        "slug": "itm2b",
        "symbol": "ITM2B",
        "name": "integral membrane protein 2B",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/itm2b"
      },
      {
        "slug": "osmr",
        "symbol": "OSMR",
        "name": "oncostatin M receptor",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/osmr"
      },
      {
        "slug": "ttr",
        "symbol": "TTR",
        "name": "transthyretin",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/ttr"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}