Disease-gene associations mined from literature

Literature associating BCKDHB and hypophosphatemic nephrolithiasis/osteoporosis 2

BCKDHB [ENSP00000318351]

Branched-chain alpha-keto acid dehydrogenase E1 component beta chain; The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3).

Synonyms:  BCKDHB,  B7ZB80,  BCKDHB-001,  BCKDHB-002,  BCKDHB-003 ...

Linkouts:  STRING  Pharos  UniProt  OMIM