{
  "url": "https://dantelabs.com/pt/genes/alpk1",
  "gene": {
    "slug": "alpk1",
    "symbol": "ALPK1",
    "name": "alpha kinase 1",
    "hgnc": "HGNC:20917",
    "summary": null,
    "location": "4q25",
    "locusType": "gene with protein product",
    "aliases": [
      "Lak",
      "FLJ22670",
      "KIAA1527"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000073331",
    "entrezId": 80216,
    "omim": [
      "607347"
    ],
    "uniprot": [
      "Q96QP1"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "4",
      "start": 112297369,
      "end": 112442621,
      "strand": "+",
      "ensemblTranscript": "ENST00000650871.1",
      "refseqTranscript": "NM_025144.4",
      "ensemblProtein": "ENSP00000498374.1",
      "refseqProtein": "NP_079420.3",
      "exons": [
        {
          "start": 112297369,
          "end": 112297469
        },
        {
          "start": 112315801,
          "end": 112315852
        },
        {
          "start": 112377678,
          "end": 112377898
        },
        {
          "start": 112382398,
          "end": 112382552
        },
        {
          "start": 112411827,
          "end": 112412025
        },
        {
          "start": 112423944,
          "end": 112424003
        },
        {
          "start": 112425665,
          "end": 112425751
        },
        {
          "start": 112426467,
          "end": 112426543
        },
        {
          "start": 112427570,
          "end": 112427665
        },
        {
          "start": 112429149,
          "end": 112429253
        },
        {
          "start": 112430448,
          "end": 112432581
        },
        {
          "start": 112435148,
          "end": 112435301
        },
        {
          "start": 112438484,
          "end": 112438646
        },
        {
          "start": 112439686,
          "end": 112439872
        },
        {
          "start": 112440917,
          "end": 112441105
        },
        {
          "start": 112441203,
          "end": 112442621
        }
      ],
      "cds": {
        "start": 112377778,
        "end": 112441210
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "4",
      "start": 113206665,
      "end": 113363776,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 111869995,
      "end": 112869994,
      "genes": [
        {
          "symbol": "FAM241A",
          "ensemblId": "ENSG00000174749",
          "biotype": "protein_coding",
          "start": 112145408,
          "end": 112195256,
          "strand": "+",
          "slug": "fam241a"
        },
        {
          "symbol": "AP1AR",
          "ensemblId": "ENSG00000138660",
          "biotype": "protein_coding",
          "start": 112231363,
          "end": 112273110,
          "strand": "+",
          "slug": "ap1ar"
        },
        {
          "symbol": "TIFA",
          "ensemblId": "ENSG00000145365",
          "biotype": "protein_coding",
          "start": 112272966,
          "end": 112302436,
          "strand": "-",
          "slug": "tifa"
        },
        {
          "symbol": "NEUROG2",
          "ensemblId": "ENSG00000178403",
          "biotype": "protein_coding",
          "start": 112513516,
          "end": 112516180,
          "strand": "-",
          "slug": "neurog2"
        },
        {
          "symbol": "ZGRF1",
          "ensemblId": "ENSG00000138658",
          "biotype": "protein_coding",
          "start": 112534428,
          "end": 112637402,
          "strand": "-",
          "slug": "zgrf1"
        },
        {
          "symbol": "LARP7",
          "ensemblId": "ENSG00000174720",
          "biotype": "protein_coding",
          "start": 112636990,
          "end": 112657861,
          "strand": "+",
          "slug": "larp7"
        },
        {
          "symbol": "ANK2",
          "ensemblId": "ENSG00000145362",
          "biotype": "protein_coding",
          "start": 112818032,
          "end": 113384237,
          "strand": "+",
          "slug": "ank2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "rosah-syndrome-alpk1",
        "name": "Síndrome ROSAH",
        "diseases": [
          {
            "mondoId": "MONDO:0013999",
            "name": "Síndrome de Distrofia da Retina, Edema do Nervo Ótico, Esplenomegalia, Anidrose e Cefaleia do Tipo Enxaqueca",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "Causada por uma alteração numa cópia do gene ALPK1, uma proteína cuja forma alterada ativa a via inflamatória NF-kB. A alteração p.Thr237Met foi descrita em mais do que uma família, e a doença associada ao ALPK1 é hereditária de forma autossómica dominante.",
            "management": "Acompanhamento regular por especialistas em oftalmologia, inflamação (reumatologia) e medicina dentária, com serviços de baixa visão conforme necessário. Cada filho de uma pessoa afetada tem 50% de probabilidade de herdar a alteração, pelo que o aconselhamento genético e o rastreio familiar são úteis.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/pt/conditions/rosah-syndrome-alpk1"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "cone-cone-rod-dystrophy",
        "name": "Cone/cone-rod dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cone-cone-rod-dystrophy"
      },
      {
        "slug": "recurrent-fever",
        "name": "Episodic fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-fever"
      },
      {
        "slug": "urticaria",
        "name": "Hives",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/urticaria"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "anhidrosis",
        "name": "Lack of sweating",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/anhidrosis"
      },
      {
        "slug": "pancytopenia",
        "name": "Low blood cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pancytopenia"
      },
      {
        "slug": "migraine",
        "name": "Migraine",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/migraine"
      },
      {
        "slug": "visual-loss",
        "name": "Visual loss",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/visual-loss"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}