GPX6

Chr 6

glutathione peroxidase 6

Also known as: GPX5p, GPXP3, GPx-6, GSHPx-6, dJ1186N24, dJ1186N24.1

The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of hydrogen peroxide, organic hydroperoxides and lipid hydroperoxides, and thereby protect cells against oxidative damage. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. Expression of this gene has been observed in embryos and olfactory epithelium; however, the exact function of this gene is not known. This isozyme is a selenoprotein in humans, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. The orthologs of this gene in mouse and rat (and some other species) contain a cysteine (Cys) residue in place of the Sec residue, and their corresponding mRNAs lack SECIS element. [provided by RefSeq, Jul 2017]

ResearchGenerating clinical summary…
0
Active trials
11
Pubs (1 yr)
P/LP submissions
P/LP missense
1.56
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.56LOEUF
pLI 0.000
Z-score 0.27
OE 0.91 (0.551.56)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.47Z-score
OE missense 0.88 (0.741.03)
100 obs / 114.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.91 (0.551.56)
00.351.4
Missense OE?0.88 (0.741.03)
00.61.4
Synonymous OE?0.61
01.21.6
LoF obs/exp: 9 / 9.9Missense obs/exp: 100 / 114.3Syn Z: 2.10

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

GPX6 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →