GPX1
LOCUS ID2876
GENE_SYMBOLGPX1
GENE NAMEglutathione peroxida
SYNONYMNSGPXD, GSHPX1
CHROMOSOME3
HOMOLOGENE ID20155
microRNAsNANA
GENE SUMMARY
This gene encodes a member of the glutathione peroxidase family. Glutathione peroxidase functions in the detoxification of hydrogen peroxide, and is one of the most important antioxidant enzymes in humans. This protein is one of only a few proteins known in higher vertebrates to contain selenocysteine, which occurs at the active site of glutathione peroxidase and is coded by UGA, that normally functions as a translation termination codon. In addition, this protein is characterized in a polyalanine sequence polymorphism in the N-terminal region, which includes three alleles with five, six or seven alanine (ALA) repeats in this sequence. The allele with five ALA repeats is significantly associated with breast cancer risk. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

OBSERVATIONS

Complication Evidence PMID
Atherosclerosis1. The presence of Pro197Leu substitution of the GPx-1 gene may play a crucial role in determining genetic susceptibility to corory-arteriosclerosis in T2D. 2. Ebselen, a glutathione peroxidase 1 (GPX1) mimic, has been shown to improve beta-cell function in diabetes and prevent atherosclerosis.17825092, 26006030
Retinopathy1. We identified differential DNA methylation of 349 CpG sites representing 233 unique genes including TNF, CHI3L1 (also known as YKL-40), CHN2, GIPR, GLRA1, GPX1, AHRR, and BCOR in cases with PDR compared with controls.26248552