Branched-Chain Alpha-Keto Acid Dehydrogenase Kinase

Alternative Names

BCKDK
BCKDH Kinase
BDK
BCKD Kinase

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Length

9,255 bases

No. of Exons

No. of isoforms

Protein Name

Branched-chain alpha-ketoacid dehydrogenase kinase

Molecular Mass

46360 Da

Amino Acid Count

412

Genomic Location

chr16:31,108,386-31,117,640

Gene Map Locus

16p11.2

Description

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. [From RefSeq]

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	HGVS Expressions	dbSNP	Clinvar
NM_005881.4:c.556G>A	Qatar	NC_000016.10:g.31110413G>A	Uncertain Significance	Likely Benign	NG_033011.2:g.7029G>A; NM_005881.4:c.556G>A; NP_005872.2:p.Val186Ile	188092823	1037546

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=BCKDK

Contributors

Sayeeda Hana: 19.03.2025

Edit History

Sayeeda Hana: 19.03.2025