GENETIC ENCYCLOPEDIA
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gene: BCKDHB

id594
symbolBCKDHB
organismHomo sapiens
full namebranched chain keto acid dehydrogenase E1 subunit beta
summaryThis 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. [provided by RefSeq, Jan 2016]
variant-disease

NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro) AND Maple syrup urine disease

NM_183050.4(BCKDHB):c.616C>T (p.His206Tyr) AND MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB

NM_183050.2(BCKDHB):c.1039-7_1039-4delTCTG AND MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB

NM_183050.4(BCKDHB):c.1147T>G (p.Tyr383Asp) AND not provided

NM_183050.4(BCKDHB):c.197-30A>C AND not specified

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