{
  "url": "https://dantelabs.com/pt/genes/tpk1",
  "gene": {
    "slug": "tpk1",
    "symbol": "TPK1",
    "name": "thiamin pyrophosphokinase 1",
    "hgnc": "HGNC:17358",
    "summary": null,
    "location": "7q35",
    "locusType": "gene with protein product",
    "aliases": [
      "HTPK1",
      "PP20"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000196511",
    "entrezId": 27010,
    "omim": [
      "606370"
    ],
    "uniprot": [
      "Q9H3S4"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "7",
      "start": 144451941,
      "end": 144836053,
      "strand": "-",
      "ensemblTranscript": "ENST00000360057.7",
      "refseqTranscript": "NM_022445.4",
      "ensemblProtein": "ENSP00000353165.3",
      "refseqProtein": "NP_071890.2",
      "exons": [
        {
          "start": 144451941,
          "end": 144453663
        },
        {
          "start": 144548491,
          "end": 144548602
        },
        {
          "start": 144591423,
          "end": 144591569
        },
        {
          "start": 144623166,
          "end": 144623261
        },
        {
          "start": 144648807,
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        },
        {
          "start": 144682909,
          "end": 144682978
        },
        {
          "start": 144765880,
          "end": 144765951
        },
        {
          "start": 144835560,
          "end": 144835618
        },
        {
          "start": 144835967,
          "end": 144836053
        }
      ],
      "cds": {
        "start": 144453545,
        "end": 144835602
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "7",
      "start": 144149034,
      "end": 144533488,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 144067828,
      "end": 145220166,
      "genes": [
        {
          "symbol": "OR2A25",
          "ensemblId": "ENSG00000221933",
          "biotype": "protein_coding",
          "start": 144069811,
          "end": 144075870,
          "strand": "+",
          "slug": "or2a25"
        },
        {
          "symbol": "OR2A12",
          "ensemblId": "ENSG00000221858",
          "biotype": "protein_coding",
          "start": 144086278,
          "end": 144098953,
          "strand": "+",
          "slug": "or2a12"
        },
        {
          "symbol": "OR2A2",
          "ensemblId": "ENSG00000221989",
          "biotype": "protein_coding",
          "start": 144109583,
          "end": 144110539,
          "strand": "+",
          "slug": "or2a2"
        },
        {
          "symbol": "OR2A14",
          "ensemblId": "ENSG00000221938",
          "biotype": "protein_coding",
          "start": 144123176,
          "end": 144131188,
          "strand": "+",
          "slug": "or2a14"
        },
        {
          "symbol": "ARHGEF35",
          "ensemblId": "ENSG00000213214",
          "biotype": "protein_coding",
          "start": 144182888,
          "end": 144195879,
          "strand": "-",
          "slug": "arhgef35"
        },
        {
          "symbol": "CTAGE4",
          "ensemblId": "ENSG00000288784",
          "biotype": "protein_coding",
          "start": 144183466,
          "end": 144186080,
          "strand": "+",
          "slug": "ctage4"
        },
        {
          "symbol": "OR2A42",
          "ensemblId": "ENSG00000212807",
          "biotype": "protein_coding",
          "start": 144228244,
          "end": 144239605,
          "strand": "-",
          "slug": "or2a42"
        },
        {
          "symbol": "OR2A7",
          "ensemblId": "ENSG00000243896",
          "biotype": "protein_coding",
          "start": 144254975,
          "end": 144264792,
          "strand": "-",
          "slug": "or2a7"
        },
        {
          "symbol": "CTAGE8",
          "ensemblId": "ENSG00000289604",
          "biotype": "protein_coding",
          "start": 144266674,
          "end": 144269288,
          "strand": "-",
          "slug": "ctage8"
        },
        {
          "symbol": "OR2A1",
          "ensemblId": "ENSG00000221970",
          "biotype": "protein_coding",
          "start": 144312419,
          "end": 144322737,
          "strand": "+",
          "slug": "or2a1"
        },
        {
          "symbol": "ARHGEF5",
          "ensemblId": "ENSG00000050327",
          "biotype": "protein_coding",
          "start": 144355288,
          "end": 144380632,
          "strand": "+",
          "slug": "arhgef5"
        },
        {
          "symbol": "NOBOX",
          "ensemblId": "ENSG00000106410",
          "biotype": "protein_coding",
          "start": 144396894,
          "end": 144403795,
          "strand": "-",
          "slug": "nobox"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "thiamine-transporter-and-metabolism-disorders",
        "name": "Perturbações dos Transportadores e do Metabolismo da Tiamina",
        "diseases": [
          {
            "mondoId": "MONDO:0017578",
            "name": "Perturbações do Transporte e do Metabolismo da Tiamina",
            "genes": 4,
            "inheritance": "autosomal-recessive",
            "description": "Defeitos hereditários nos transportadores de tiamina ou na sua ativação, causados por genes como SLC19A2, SLC19A3, TPK1 e SLC25A19, que podem provocar anemia, diabetes e perda auditiva ou episódios de disfunção cerebral grave.",
            "management": "Conhecer a alteração permite iniciar cedo o tratamento com tiamina em dose elevada e, quando indicado, com biotina, o que pode prevenir ou reduzir complicações graves em várias destas perturbações.",
            "evidence": {
              "gencc": [
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/pt/conditions/thiamine-transporter-and-metabolism-disorders"
      },
      {
        "slug": "leigh-syndrome",
        "name": "Síndrome de Leigh",
        "diseases": [
          {
            "mondoId": "MONDO:0009723",
            "name": "Síndrome de Leigh",
            "genes": 69,
            "inheritance": null,
            "description": "Doença neurológica progressiva caracterizada por determinadas alterações neuropatológicas que associam lesões do tronco cerebral e dos gânglios da base.",
            "management": null,
            "evidence": {
              "gencc": [],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/pt/conditions/leigh-syndrome"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "clonic-seizure",
        "name": "Clonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/clonic-seizure"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "vertigo",
        "name": "Dizziness",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/vertigo"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "encephalopathy",
        "name": "Encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/encephalopathy"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "episodic-ataxia",
        "name": "Episodic ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/episodic-ataxia"
      },
      {
        "slug": "ophthalmoplegia",
        "name": "Eye muscle paralysis",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ophthalmoplegia"
      },
      {
        "slug": "global-brain-atrophy",
        "name": "Generalized brain degeneration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/global-brain-atrophy"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "increased-circulating-lactate-concentration",
        "name": "Higher than normal levels of lactate in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration"
      },
      {
        "slug": "gait-ataxia",
        "name": "Inability to coordinate movements when walking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gait-ataxia"
      },
      {
        "slug": "dysphonia",
        "name": "Inability to produce voice sounds",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dysphonia"
      },
      {
        "slug": "increased-csf-lactate",
        "name": "Increased CSF lactate",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-csf-lactate"
      },
      {
        "slug": "lactic-acidosis",
        "name": "Increased lactate in body",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lactic-acidosis"
      },
      {
        "slug": "increased-urine-alpha-ketoglutarate-concentration",
        "name": "Increased urine alpha-ketoglutarate concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-urine-alpha-ketoglutarate-concentration"
      },
      {
        "slug": "truncal-ataxia",
        "name": "Instability or lack of coordination of central trunk muscles",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/truncal-ataxia"
      },
      {
        "slug": "intention-tremor",
        "name": "Intention tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intention-tremor"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "left-ventricular-hypertrophy",
        "name": "Left ventricular hypertrophy",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/left-ventricular-hypertrophy"
      },
      {
        "slug": "developmental-regression",
        "name": "Loss of developmental milestones",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/developmental-regression"
      },
      {
        "slug": "loss-of-speech",
        "name": "Loss of speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/loss-of-speech"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "lower-limb-spasticity",
        "name": "Lower limb spasticity",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lower-limb-spasticity"
      }
    ],
    "related": [
      {
        "slug": "slc19a3",
        "symbol": "SLC19A3",
        "name": "solute carrier family 19 member 3",
        "shared": 2,
        "url": "https://dantelabs.com/pt/genes/slc19a3"
      },
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/aifm1"
      },
      {
        "slug": "atp5mk",
        "symbol": "ATP5MK",
        "name": "ATP synthase membrane subunit k",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/atp5mk"
      },
      {
        "slug": "btd",
        "symbol": "BTD",
        "name": "biotinidase",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/btd"
      },
      {
        "slug": "cox10",
        "symbol": "COX10",
        "name": "cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/cox10"
      },
      {
        "slug": "dlat",
        "symbol": "DLAT",
        "name": "dihydrolipoamide S-acetyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/dlat"
      },
      {
        "slug": "dld",
        "symbol": "DLD",
        "name": "dihydrolipoamide dehydrogenase",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/dld"
      },
      {
        "slug": "ears2",
        "symbol": "EARS2",
        "name": "glutamyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/ears2"
      },
      {
        "slug": "echs1",
        "symbol": "ECHS1",
        "name": "enoyl-CoA hydratase, short chain 1",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/echs1"
      },
      {
        "slug": "ethe1",
        "symbol": "ETHE1",
        "name": "ETHE1 persulfide dioxygenase",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/ethe1"
      },
      {
        "slug": "fars2",
        "symbol": "FARS2",
        "name": "phenylalanyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/fars2"
      },
      {
        "slug": "fbxl4",
        "symbol": "FBXL4",
        "name": "F-box and leucine rich repeat protein 4",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/fbxl4"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}