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BCKDHB抗体
产品名称 Anti-BCKDHB Anti-branched chain keto acid dehydrogenase E1 subunit beta Antibody 产品介绍
靶标： BCKDHB 产品别名： 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： 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. |
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