BCKDHB
entrez
594
canonical
uniprot
P21953
canonical
ensembl
ENSG00000083123
resolver
ensp
ENSP00000318351
resolver
ensp
ENSP00000348880
resolver
ensp
ENSP00000776210
resolver
ensp
ENSP00000789933
resolver
ensp
ENSP00000789935
resolver
ensp
ENSP00000789937
resolver
ensp
ENSP00000789938
resolver
ensp
ENSP00000789943
resolver
ensp
ENSP00000789945
resolver
ensp
ENSP00000789946
resolver
ensp
ENSP00000795024
resolver
genesymbol
BCKDHB
resolver
hgnc
HGNC:987
resolver
uniprot
A0A140VKB3
resolver
uniprot
B4E2N3
resolver
uniprot
B7ZB80
resolver
uniprot
Q5T2J3
resolver
uniprot
Q9BQL0
resolver
uniprot_entry
A0A140VKB3_HUMAN
resolver
uniprot_entry
B4E2N3_HUMAN
resolver
uniprot_entry
B7ZB80_HUMAN
resolver
uniprot_entry
ODBB_HUMAN
resolver
uniprot_sec
Q5T2J3
resolver
uniprot_sec
Q9BQL0
resolver
amino_acid_sequence
MAVVAAAAGWLLRLRAAGAEGHWRRLPGAGLARGFLHPAATVEDAAQRRQVAHFTFQPDPEPREYGQTQKMNLFQSVTSALDNSLAKDPTAVIFGEDVAFGGVFRCTVGLRDKYGKDRVFNTPLCEQGIVGFGIGIAVTGATAIAEIQFADYIFPAFDQIVNEAAKYRYRSGDLFNCGSLTIRSPWGCVGHGALYHSQSPEAFFAHCPGIKVVIPRSPFQAKGLLLSCIEDKNPCIFFEPKILYRAAAEEVPIEPYNIPLSQAEVIQEGSDVTLVAWGTQVHVIREVASMAKEKLGVSCEVIDLRTIIPWDVDTICKSVIKTGRLLISHEAPLTGGFASEISSTVQEECFLNLEAPISRVCGYDTPFPHIFEPFYIPDKWKCYDALRKMINY
uniprot
proteins
disease_involvement
DISEASE: Maple syrup urine disease 1B (MSUD1B) [MIM:620698]: A form of maple syrup urine disease, an autosomal recessive metabolic disorder due to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. Accumulation of these 3 amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration. Clinical features include mental and physical retardation, feeding problems, and a maple syrup odor to the urine. The keto acids of the branched-chain amino acids are present in the urine. If untreated, maple syrup urine disease can lead to seizures, coma, and death. The disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still involve developmental delay and other medical problems if not treated. {ECO:0000269|PubMed:10745006, ECO:0000269|PubMed:11509994, ECO:0000269|PubMed:22326532, ECO:0000269|PubMed:8161368}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.2.4.4
uniprot
proteins
function
FUNCTION: Together with BCKDHA forms the heterotetrameric E1 subunit of the mitochondrial branched-chain alpha-ketoacid dehydrogenase (BCKD) complex. The BCKD complex catalyzes the multi-step oxidative decarboxylation of alpha-ketoacids derived from the branched-chain amino-acids valine, leucine and isoleucine producing CO2 and acyl-CoA which is subsequently utilized to produce energy. The E1 subunit catalyzes the first step with the decarboxylation of the alpha-ketoacid forming an enzyme-product intermediate. A reductive acylation mediated by the lipoylamide cofactor of E2 extracts the acyl group from the E1 active site for the next step of the reaction. {ECO:0000269|PubMed:10745006, ECO:0000269|PubMed:9582350}.
uniprot
proteins
mass_dalton
43122
uniprot
proteins
pubmed
10745006
uniprot
proteins
pubmed
11509994
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22326532
uniprot
proteins
pubmed
2335211
uniprot
proteins
pubmed
2365818
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
7918575
uniprot
proteins
pubmed
8161368
uniprot
proteins
pubmed
8651316
uniprot
proteins
pubmed
9582350
uniprot
proteins
sequence_length
392
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000303|PubMed:10745006}.
uniprot
proteins