rs200680648
This variant is located in the HIBADH gene.
▶ClinVar annotation
About HIBADH
This gene encodes a mitochondrial 3-hydroxyisobutyrate dehydrogenase enzyme. The encoded protein plays a critical role in the catabolism of L-valine by catalyzing the oxidation of 3-hydroxyisobutyrate to methylmalonate semialdehyde. [provided by RefSeq, Nov 2011]
View all HIBADH variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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