Gene: ACOX1

Alternate names for this Gene: ACOX|MITCH|PALMCOX|SCOX

Gene Summary: The protein encoded by this gene is the first enzyme of the fatty acid beta-oxidation pathway, which catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. It donates electrons directly to molecular oxygen, thereby producing hydrogen peroxide. Defects in this gene result in pseudoneonatal adrenoleukodystrophy, a disease that is characterized by accumulation of very long chain fatty acids. Alternatively spliced transcript variants encoding different isoforms have been identified.

Gene is located in Chromosome: 17

Location in Chromosome : 17q25.1

Description of this Gene: acyl-CoA oxidase 1

Type of Gene: protein-coding

rs4788913 in ACOX1 gene and Diastolic blood pressure PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

rs2467099 in ACOX1 gene and Systolic Pressure PMID 28135244 2017 Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk.

PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.