BCKDK
Sign in to saveAlso known as BCKDKD, BDK, branched chain ketoacid dehydrogenase kinase, branched chain keto acid dehydrogenase kinase
gen de la especie Homo sapiens
Gene data
BCKDK- Name
- branched chain keto acid dehydrogenase kinase
- Type
- protein-coding
- Position
- 31,106,107–31,113,464 (+)
- Aliases
- BCKDKD, BDK
- Ensembl
- ENSG00000103507
- RefSeq RNA
- NM_001122957.4, NM_001271926.3, NM_005881.4, XM_017022859.2, XM_054379382.1
- RefSeq protein
- NP_001116429.1, NP_001258855.1, NP_005872.2, XP_016878348.1, XP_054235357.1
The branched-chain alpha-ketoacid dehydrogenase complex (BCKD) is an important regulator of the valine, leucine, and isoleucine catabolic pathways. The protein encoded by this gene is found in the mitochondrion, where it phosphorylates and inactivates BCKD. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
branched chain keto acid dehydrogenase kinase
- Symbol
- BCKDK
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 16:31,106,107-31,113,464
- Strand
- Forward (+)
- Assembly
- GRCh38
View on Ensembl →
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
- Image
- Protein BCKDK PDB 1gjv.png
Show 9 more facts
- HomoloGene ID
- 37642
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/10295
- genomic end
- 31124110
- genomic start
- 31117428
- chromosome
- human chromosome 16
- cytogenetic location
- 16p11.2
- expressed in
- parotid gland
- genetic association
- branched-chain keto acid dehydrogenase kinase deficiency
Sources (8)
via Wikidata · CC0