Gene: HIBADH

Alternate names for this Gene: NS5ATP1

Gene Summary: 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.

Gene is located in Chromosome: 7

Location in Chromosome : 7p15.2

Description of this Gene: 3-hydroxyisobutyrate dehydrogenase

Type of Gene: protein-coding

rs1229605 in HIBADH gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs11767188 in HIBADH gene and Cardiovascular Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12700814 in HIBADH gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs73071612 in HIBADH gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.