|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:BCKD_E1_beta_subunit
E1-beta
branched-chain alpha-keto acid dehydrogenase E1 component beta subunit
|
|
gptkbp:associatedWith
|
gptkb:maple_syrup_urine_disease
|
|
gptkbp:encodes
|
branched-chain alpha-keto acid dehydrogenase E1 beta subunit
|
|
gptkbp:Entrez_Gene_ID
|
593
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
liver
|
|
gptkbp:fullName
|
branched chain keto acid dehydrogenase E1 subunit beta
|
|
gptkbp:function
|
catalyzes decarboxylation of branched-chain alpha-keto acids
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
HGNC:1007
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
BCKDHB
|
|
gptkbp:locatedOnChromosome
|
gptkb:6p21.1
|
|
gptkbp:mutationAssociatedWith
|
maple syrup urine disease type 1B
|
|
gptkbp:OMIM
|
248611
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Bckdhb
|
|
gptkbp:proteinFamily
|
gptkb:branched-chain_alpha-keto_acid_dehydrogenase_complex
|
|
gptkbp:UniProtID
|
P21953
|
|
gptkbp:bfsParent
|
gptkb:branched-chain_alpha-keto_acid_dehydrogenase_complex
gptkb:maple_syrup_urine_disease
|
|
gptkbp:bfsLayer
|
8
|