rs774302251

This variant is located in the BCKDK gene.

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ClinVar annotation

Uncertain Significance★★★☆

3 submitters2 publications

not provided; Branched-chain keto acid dehydrogenase kinase deficiency; Inborn genetic diseases

About BCKDK

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]

View all BCKDK variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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