Immunogen sequence: RSPWGCVGHG ALYHSQSPEA FFAHCPGIKV VIPRSPFQAK GLLLSCIEDK NPCIFFEPKI LYRAAAEEVP IEPYNIPLSQ AEVIQEGSDV TLVAWGTQVH VIREVASMAK EKLGVSCEVI DLRTIIPWDV DTICKSVIKT GRLLISHEAP LTGGFASEIS STVQEECFLN LEAPISRVCG YDTPFPHIFE PFYIPDKWKC YDALRKMINY; Positive Samples: Mouse pancreas; Cellular Location: Mitochondrion matrix
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.
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Protein Aliases: 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial; BCKDE1B; Branched-chain alpha-keto acid dehydrogenase E1 component beta chain
Gene Aliases: BCKDE1B; BCKDH E1-beta; Bckdhb
UniProt ID: (Mouse) Q6P3A8
Entrez Gene ID: (Mouse) 12040