BCKDHA

URI: https://gptkb.org/entity/BCKDHA
GPTKB entity
Statements (19)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alternativeName gptkb:BCKD_E1_alpha_subunit
gptkb:branched-chain_keto_acid_dehydrogenase_E1_alpha_polypeptide
gptkbp:associatedWith gptkb:maple_syrup_urine_disease
gptkbp:encodes gptkb:branched-chain_alpha-keto_acid_dehydrogenase_E1_alpha_subunit
gptkbp:Entrez_Gene_ID 593
gptkbp:expressedIn gptkb:skeletal_muscle
liver
gptkbp:function catalyzes decarboxylation of branched-chain alpha-keto acids
gptkbp:HGNC_ID gptkb:HGNC:1008
https://www.w3.org/2000/01/rdf-schema#label BCKDHA
gptkbp:locatedOnChromosome 19q13.2
gptkbp:mutationAssociatedWith gptkb:maple_syrup_urine_disease_type_IA
gptkbp:OMIM 248600
gptkbp:organism gptkb:Homo_sapiens
gptkbp:proteinFamily gptkb:branched-chain_alpha-keto_acid_dehydrogenase_complex
gptkbp:UniProtID P12694
gptkbp:bfsParent gptkb:chromosome_19
gptkbp:bfsLayer 6