|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:maple_syrup_urine_disease
|
|
gptkbp:component
|
gptkb:branched-chain_alpha-keto_acid_dehydrogenase_complex
|
|
gptkbp:encodes
|
gptkb:BCKDHA_protein
|
|
gptkbp:Entrez_Gene_ID
|
593
|
|
gptkbp:expressedIn
|
mitochondria
|
|
gptkbp:foundIn
|
gptkb:Homo_sapiens
|
|
gptkbp:fullName
|
branched chain keto acid dehydrogenase E1 alpha polypeptide
|
|
gptkbp:function
|
catalyzes decarboxylation of branched-chain alpha-keto acids
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:1008
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
BCKDHA gene
|
|
gptkbp:inheritsFrom
|
autosomal recessive
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_19
19q13.2
|
|
gptkbp:mutationAssociatedWith
|
impaired branched-chain amino acid metabolism
|
|
gptkbp:OMIM
|
248600
|
|
gptkbp:orthologInMouse
|
Bckdha
|
|
gptkbp:pathway
|
valine, leucine and isoleucine degradation
|
|
gptkbp:product
|
E1 alpha subunit of BCKDH complex
|
|
gptkbp:UniProtID
|
P12694
|
|
gptkbp:bfsParent
|
gptkb:BCKD_E1_alpha_subunit
gptkb:branched-chain_alpha-keto_acid_dehydrogenase_E1_alpha_subunit
gptkb:maple_syrup_urine_disease_type_IA
|
|
gptkbp:bfsLayer
|
8
|