靶标９�p style="text-indent: 2em;">BCKDHB

产品别名９�p style="text-indent: 2em;">BCKDE1B� BCKDH E1-beta� E1B� BCKDHB� branched chain keto acid dehydrogenase E1 subunit beta� branched chain keto acid dehydrogenase E1 subunit beta� 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial� E1b-beta subunit of the branched-chain complex� branched chain alpha-ketoacid dehydrogenase E1-beta subunit� branched chain keto acid dehydrogenase E1 beta� branched chain keto acid dehydrogenase E1, beta polypeptide� branched-chain alpha-keto acid dehydrogenase E1 component beta chain� testis secretory sperm-binding protein Li 240mP�

背景信息９�div style="text-indent: 2em;">This gene encodes the E1 beta subunit of branched-chain keto acid dehydrogenase, which is a multienzyme complex associated with the inner membrane of mitochondria. This enzyme complex functions in the catabolism of branched-chain amino acids. Mutations in this gene 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 multiple transcript variants.