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MGP001306

UniProt Annotations

Entry Information
Gene Nameglutathione peroxidase 4
Protein Entry
UniProt IDQ6PI42
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative initiation; Named isoforms=2; Name=Mitochondrial; IsoId=P36969-1; Sequence=Displayed; Name=Cytoplasmic; IsoId=P36969-2; Sequence=VSP_018740;
Catalytic Activity2 glutathione + a lipid hydroperoxide = glutathione disulfide + lipid + 2 H(2)O.
DiseaseSpondylometaphyseal dysplasia, Sedaghatian type (SMDS) [MIM:250220]: A form of spondylometaphyseal dysplasia, a group of short stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. SMDS is a neonatal lethal form characterized by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, cardiac conduction defects, and central nervous system abnormalities. {ECO:0000269|PubMed:24706940}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionProtects cells against membrane lipid peroxidation and cell death. Required for normal sperm development and male fertility. Could play a major role in protecting mammals from the toxicity of ingested lipid hydroperoxides. Essential for embryonic development. Protects from radiation and oxidative damage (By similarity). {ECO:0000250}.
SimilarityBelongs to the glutathione peroxidase family. {ECO:0000305}.
Subcellular LocationIsoform Cytoplasmic: Cytoplasm.
Subcellular LocationIsoform Mitochondrial: Mitochondrion.
SubunitMonomer. Has a tendency to form higher mass oligomers. {ECO:0000269|PubMed:17630701}.
Tissue SpecificityPresent primarily in testis.
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/gpx4/";
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