rs201213741

This variant is located in the BCKDK gene.

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ClinVar annotation

Likely Benign★★★☆
2 submitters2 publications

Branched-chain keto acid dehydrogenase kinase deficiency

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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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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