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Gene : BCKDHB Homo sapiens

Name  ? branched chain keto acid dehydrogenase E1 subunit beta Cytological Location  6q14.1
Brief Description  branched chain keto acid dehydrogenase E1 subunit beta
Description  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. [provided by RefSeq, Jan 2016]
  • synonyms:
  • HGNC:987,
  • BCKDH E1-beta,
  • branched chain keto acid dehydrogenase E1, beta polypeptide,
  • M55575,
  • uc003pje.3,
  • maple syrup urine disease,
  • 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial,
  • OTTHUMG00000016430,
  • E1B,
  • BCKDE1B,
  • NM_000056
  • identifiers:
  • 594,
  • ENSG00000083123,

Genome feature

Region: gene ? Length: 362479  
Location: 6:80106610-80469088 Cyto location: 6q14.1

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1 Diseases

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3740 SN Ps

5 Cross References

19 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results