Creative biogene
SHARE THIS
facebook twitterlinkedingoogle plusStumbleUpon blog


Products
CBpromise

24x7 CUSTOMER SERVICE

CONTACT US TO ORDER

;

bckdhb

Bookmark and Share
Official Full Name
branched chain keto acid dehydrogenase E1, beta polypeptide
Background
Branched-chain keto acid dehydrogenase is a multienzyme complex associated with the inner membrane of mitochondria, and functions in the catabolism of branched-chain amino acids. The complex consists of multiple copies of 3 components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). This gene encodes the E1 beta subunit, and mutations therein have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation, and feeding problems. Alternative splicing at this locus results in transcript variants with different 3 non-coding regions, but encoding the same isoform.
Synonyms
BCKDHB; branched chain keto acid dehydrogenase E1, beta polypeptide; 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial; maple syrup urine disease; BCKDE1B; BCKDH E1-beta; 2-oxoisovalerate dehydrogenase beta subunit; E1b-beta subunit of the branch; E1b-beta subunit of the branched-chain complex; branched chain alpha-ketoacid dehydrogenase E1-beta subunit; branched-chain alpha-keto acid dehydrogenase E1 component beta chain; E1B; dJ279A18.1; FLJ17880; E1B, dJ279A18.1; mitochondrial branched-chain alpha-keto acid dehydrogenase E1-beta subunit; branched chain keto acid dehydrogenase E1, beta po; zgc:158777

CONTACT CREATIVE BIOGENE

45-1 Ramsey Road, Shirley, NY 11967, USA
Tel: 1-631-626-9181
Fax: 1-631-614-7828
Email: info@creative-biogene.com

Europe
Tel: 44-207-097-1828

Terms & Conditions | Privacy Policy | Sitemap | FAQ | © 2010-2018 Creative Biogene. All Rights Reserved.