rs3744032

This variant is located in the ACOX1 gene.

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GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

metabolite measurement

Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)

Allele T

OR 0.54

p 7.0e-56

N 4,901

Large GWAS

European

urinary metabolite measurement

Schlosser P et al. “Genetic studies of urinary metabolites illuminate mechanisms of detoxification and excretion in humans.” Nature Genetics 52(2):167-176 (2020)

Allele T

OR 0.59

p 2.0e-28

N 1,221

Large GWAS

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ClinVar annotation

Likely Benign★★★☆

4 submitters1 publication

Acyl-CoA oxidase deficiency; Mitchell syndrome; Nonpapillary renal cell carcinoma; not provided; Acute myeloid leukemia; Uterine corpus endometrial carcinoma; Uveal melanoma; Thymoma

View on ClinVar →

About ACOX1

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. [provided by RefSeq, Jul 2008]