rs57457691
This variant is located in the PEPD gene.
▶GWAS Catalog Trait Associations (14)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (14)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
aspartate aminotransferase measurement
alcohol drinking, high density lipoprotein cholesterol measurement
triglyceride measurement, phospholipid level
cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement
free cholesterol in large HDL measurement
phospholipids in very large HDL measurement
total cholesterol change measurement, high density lipoprotein cholesterol measurement
cholesteryl esters in large HDL measurement
total cholesterol measurement, high density lipoprotein cholesterol measurement
total lipids in very large HDL measurement
About PEPD
This gene encodes a member of the peptidase family. The protein forms a homodimer that hydrolyzes dipeptides or tripeptides with C-terminal proline or hydroxyproline residues. The enzyme serves an important role in the recycling of proline, and may be rate limiting for the production of collagen. Mutations in this gene result in prolidase deficiency, which is characterized by the excretion of large amount of di- and tri-peptides containing proline. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
View all PEPD variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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