Gene

bckd-1A

Species
Caenorhabditis elegans
Symbol
bckd-1A
Name
Branched Chain Keto acid Dehydrogenase e1 (E1) subunit 1A
Synonyms
  • CELE_Y39E4A.3
  • Y39E4A.3
Biotype
protein coding gene
Automated Description
Predicted to enable 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity and metal ion binding activity. Predicted to be involved in branched-chain amino acid catabolic process. Predicted to be located in mitochondrial matrix. Predicted to be part of oxoglutarate dehydrogenase complex. Human ortholog(s) of this gene implicated in maple syrup urine disease. Orthologous to human BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha).
WB Description
Y39E4A.3 is orthologous to the human gene MAPLE SYRUP URINE DISEASE, TYPE IA (MSUD, TYPE IA; E1-alpha subunit of branched-chain keto acid dehydrogenase; OMIM:248600), which when mutated leads to maple syrup urine disease; Y39E4A.3 protein is predicted to be mitochondrial.
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR43380
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
Other Sources
None

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
WBcel235
Viewer Help
12.9680M12.9685M12.9690M12.9695M12.9700M12.9705M12.9710M12.9715M12.9720M

Sequence Details

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Expression

Primary Sources
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions