BCKDHB Gene - CISMeF

Preferred Label : BCKDHB Gene;

NCIt synonyms : Branched Chain Keto Acid Dehydrogenase E1 Subunit Beta Gene;

NCIt related terms : BCKDHB;

NCIt definition : This gene is involved in the degradation of branched-chain amino acids.;

Détails

Origin ID

C215324;

HGNC gene
- branched chain keto acid dehydrogenase E1 subunit beta [HGNC gene]
OMIM relation
- Branched-chain keto acid dehydrogenase e1, beta polypeptide [OMIM gene]
gene_encodes_gene_product
- 2-Oxoisovalerate Dehydrogenase Subunit Beta, Mitochondrial [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_mapped_to_disease
- Maple Syrup Urine Disease [NCIt concept]
gene_plays_role_in_process
- Amino Acid Metabolic Process [NCIt concept]
- Catabolic Process [NCIt concept]
- Detoxification [NCIt concept]
- Lipid Metabolic Process [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]

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