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Gene : BCKDHA Homo sapiens

Name  ? branched chain keto acid dehydrogenase E1 subunit alpha Cytological Location  19q13.2
Brief Description  branched chain keto acid dehydrogenase E1 subunit alpha
Description  The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple syrup urine disease, type IA. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
  • synonyms:
  • OVD1A,
  • MSUD1,
  • NM_000709,
  • maple syrup urine disease,
  • J04474,
  • OTTHUMG00000168128,
  • branched chain keto acid dehydrogenase E1, alpha polypeptide,
  • BCKDE1A,
  • MSU,
  • HGNC:986,
  • 2-oxoisovalerate dehydrogenase (lipoamide),
  • branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease),
  • OVD1A,
  • MSU,
  • uc002oqq.4,
  • BCKDHA
  • identifiers:
  • 593,
  • ENSG00000248098,
  • BCKDHA

Genome feature

Region: gene ? Length: 27185  
Location: 19:41397818-41425002 Cyto location: 19q13.2


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SNPs

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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Expression

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Other

3756 SN Ps

5 Cross References

19 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results