{ "url": "https://dantelabs.com/fi/genes/bckdha", "gene": { "slug": "bckdha", "symbol": "BCKDHA", "name": "branched chain keto acid dehydrogenase E1 subunit alpha", "hgnc": "HGNC:986", "summary": null, "location": "19q13.2", "locusType": "gene with protein product", "aliases": [ "MSU" ], "previousSymbols": [ "OVD1A" ], "ensemblId": "ENSG00000248098", "entrezId": 593, "omim": [ "608348" ], "uniprot": [ "P12694" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "19", "start": 41397818, "end": 41425002, "strand": "+", "ensemblTranscript": "ENST00000269980.7", "refseqTranscript": "NM_000709.4", "ensemblProtein": "ENSP00000269980.2", "refseqProtein": "NP_000700.1", "exons": [ { "start": 41397818, "end": 41397935 }, { "start": 41410637, "end": 41410816 }, { "start": 41410923, "end": 41411009 }, { "start": 41414049, "end": 41414157 }, { "start": 41419135, "end": 41419296 }, { "start": 41422164, "end": 41422370 }, { "start": 41422629, "end": 41422770 }, { "start": 41422998, "end": 41423169 }, { "start": 41424438, "end": 41425002 } ], "cds": { "start": 41397828, "end": 41424608 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "19", "start": 41884215, "end": 41930910, "strand": "+" }, "neighbourhood": { "release": "116", "start": 40911410, "end": 41911409, "genes": [ { "symbol": "CYP2B6", "ensemblId": "ENSG00000197408", "biotype": "protein_coding", "start": 40991131, "end": 41018413, "strand": "+", "slug": "cyp2b6" }, { "symbol": "CYP2A13", "ensemblId": "ENSG00000197838", "biotype": "protein_coding", "start": 41088451, "end": 41096195, "strand": "+", "slug": "cyp2a13" }, { "symbol": "CYP2F1", "ensemblId": "ENSG00000197446", "biotype": "protein_coding", "start": 41114432, "end": 41128381, "strand": "+", "slug": "cyp2f1" }, { "symbol": "CYP2S1", "ensemblId": "ENSG00000167600", "biotype": "protein_coding", "start": 41192911, "end": 41207540, "strand": "+", "slug": "cyp2s1" }, { "symbol": "AXL", "ensemblId": "ENSG00000167601", "biotype": "protein_coding", 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"ENSG00000077348", "biotype": "protein_coding", "start": 41367173, "end": 41397441, "strand": "-", "slug": "exosc5" }, { "symbol": "B3GNT8", "ensemblId": "ENSG00000177191", "biotype": "protein_coding", "start": 41422878, "end": 41428730, "strand": "-", "slug": "b3gnt8" }, { "symbol": "DMAC2", "ensemblId": "ENSG00000105341", "biotype": "protein_coding", "start": 41431317, "end": 41440717, "strand": "-", "slug": "dmac2" }, { "symbol": "ERICH4", "ensemblId": "ENSG00000204978", "biotype": "protein_coding", "start": 41443152, "end": 41444765, "strand": "+", "slug": "erich4" }, { "symbol": "CEACAM21", "ensemblId": "ENSG00000007129", "biotype": "protein_coding", "start": 41549518, "end": 41586844, "strand": "+", "slug": "ceacam21" }, { "symbol": "CEACAM4", "ensemblId": "ENSG00000105352", "biotype": "protein_coding", "start": 41619014, "end": 41627082, "strand": "-", "slug": "ceacam4" }, { "symbol": "CEACAM7", "ensemblId": "ENSG00000007306", "biotype": "protein_coding", "start": 41666629, "end": 41706976, "strand": "-", "slug": "ceacam7" }, { "symbol": "CEACAM5", "ensemblId": "ENSG00000105388", "biotype": "protein_coding", "start": 41708585, "end": 41730519, "strand": "+", "slug": "ceacam5" }, { "symbol": "", "ensemblId": "ENSG00000267881", "biotype": "protein_coding", "start": 41708657, "end": 41756737, "strand": "+" }, { "symbol": "CEACAM6", "ensemblId": "ENSG00000086548", "biotype": "protein_coding", "start": 41750977, "end": 41772211, "strand": "+", "slug": "ceacam6" }, { "symbol": "CEACAM3", "ensemblId": "ENSG00000170956", "biotype": "protein_coding", "start": 41796587, "end": 41811557, "strand": "+", "slug": "ceacam3" }, { "symbol": "LYPD4", "ensemblId": "ENSG00000273111", "biotype": "protein_coding", "start": 41837073, "end": 41844718, "strand": "-", "slug": "lypd4" }, { "symbol": "DMRTC2", "ensemblId": "ENSG00000142025", "biotype": "protein_coding", "start": 41844743, "end": 41852333, "strand": "+", "slug": "dmrtc2" }, { "symbol": "RPS19", "ensemblId": "ENSG00000105372", "biotype": "protein_coding", "start": 41859848, "end": 41872931, "strand": "+", "slug": "rps19" }, { "symbol": "CD79A", "ensemblId": "ENSG00000105369", "biotype": "protein_coding", "start": 41877104, "end": 41881372, "strand": "+", "slug": "cd79a" }, { "symbol": "ARHGEF1", "ensemblId": "ENSG00000076928", "biotype": "protein_coding", "start": 41883063, "end": 41930150, "strand": "+", "slug": "arhgef1" }, { "symbol": "ERFL", "ensemblId": "ENSG00000268041", "biotype": "protein_coding", "start": 41907704, "end": 41928449, "strand": "-", "slug": "erfl" } ], "truncated": false }, "reports": [ { "slug": "maple-syrup-urine-disease", "name": "Vaahterasiirapin virtatauti", "diseases": [ { "mondoId": "MONDO:0009563", "name": "Vaahterasiirapin virtatauti", "genes": 4, "inheritance": "autosomal-recessive", "description": "Aiheutuu BCKDHA-, BCKDHB- tai DBT-geenin varianteista. Se voi aiheuttaa virtsan makeanhajuisuutta, huonoa syömistä ja hoitamattomana aivoturvotusta sekä aineenvaihduntakriisejä.", "management": "Tiedon avulla voidaan käyttää proteiinirajoitettua ruokavaliota, seurata tarkasti leusiinipitoisuuksia ja antaa hätähoitoa sairauden aikana, mikä voi estää aivovaurioita.", "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "Myriad Women's Health", "Natera", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ], "actionability": 9 }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/fi/conditions/maple-syrup-urine-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "cerebral-edema", "name": "Brain swelling", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/cerebral-edema" }, { "slug": "coma", "name": "Coma", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/coma" }, { "slug": "elevated-circulating-branched-chain-amino-acid-concentration", "name": "Elevated circulating branched-chain amino acid concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/elevated-circulating-branched-chain-amino-acid-concentration" }, { "slug": "elevated-circulating-l-alloisoleucine-concentration", "name": "Elevated circulating L-alloisoleucine concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/elevated-circulating-l-alloisoleucine-concentration" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/seizure" }, { "slug": "feeding-difficulties-in-infancy", "name": "Feeding difficulties in infancy", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/generalized-hypotonia" }, { "slug": "growth-abnormality", "name": "Growth abnormality", "systems": [], "url": "https://dantelabs.com/traits/growth-abnormality" }, { "slug": "hallucinations", "name": "Hallucinations", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/hallucinations" }, { "slug": "ketosis", "name": "High levels of ketone bodies", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/ketosis" }, { "slug": "lactic-acidosis", "name": "Increased lactate in body", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/lactic-acidosis" }, { "slug": "increased-level-of-hippuric-acid-in-urine", "name": "Increased level of hippuric acid in urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-level-of-hippuric-acid-in-urine" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "lethargy", "name": "Lethargy", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/lethargy" }, { "slug": "hypoglycemia", "name": "Low blood sugar", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/hypoglycemia" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "pancreatitis", "name": "Pancreatic inflammation", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/pancreatitis" }, { "slug": "positive-2-4-dinitrophenylhydrazine-urine-test", "name": "Positive 2,4-dinitrophenylhydrazine urine test", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/positive-2-4-dinitrophenylhydrazine-urine-test" }, { "slug": "reduced-branched-chain-alpha-keto-acid-dehydrogenase-activity-in-cultured-fibroblasts", "name": "Reduced branched-chain alpha-keto acid dehydrogenase activity in cultured fibroblasts", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/reduced-branched-chain-alpha-keto-acid-dehydrogenase-activity-in-cultured-fibroblasts" }, { "slug": "hypertonia", "name": "Spasticity and rigidity of muscles", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/hypertonia" }, { "slug": "vomiting", "name": "Vomiting", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/vomiting" } ], "related": [ { "slug": "bckdhb", "symbol": "BCKDHB", "name": "branched chain keto acid dehydrogenase E1 subunit beta", "shared": 1, "url": "https://dantelabs.com/fi/genes/bckdhb" }, { "slug": "dbt", "symbol": "DBT", "name": "dihydrolipoamide branched chain transacylase E2", "shared": 1, "url": "https://dantelabs.com/fi/genes/dbt" }, { "slug": "dld", "symbol": "DLD", "name": "dihydrolipoamide dehydrogenase", "shared": 1, "url": "https://dantelabs.com/fi/genes/dld" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }