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FLASH GENE

Symbol

BCKDHB

contributors: - updated : 03-03-2007

HGNC name	branched chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine disease)
HGNC id	987

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

text	two variants 1 and 2, 1 with a shorter 3' utr and encoding the same protein

EXPRESSION

Type

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver         Nervous brain         Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose       Muscular striatum

cells

System Cell Pubmed Species Stage Rna symbol not specific fibroblast

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

heteromer , dimer

HOMOLOGY

Homologene

FAMILY

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,inner

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

aminoacid

signaling

branched chain, second step of oxidative decarboxylation

a component	heterodimerizing with BCKDHA
	component E1 of the branched chain ketoacid dehydrogenase,associated with a transacylase E2,a lipoamide dehydrogenase E3 and two regulatory subunits,a kinase and a phosphatase

INTERACTION

DNA

RNA

small molecule	cofactor,
	thiamine diphosphate dependent enzyme

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MSUD1B

related resource

MITOP database

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS