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Gene : GPX4 Homo sapiens

Name  ? glutathione peroxidase 4 Cytological Location  19p13.3
Brief Description  glutathione peroxidase 4
description  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. This isozyme has a high preference for lipid hydroperoxides and protects cells against membrane lipid peroxidation and cell death. It is also required for normal sperm development; thus, it has been identified as a 'moonlighting' protein because of its ability to serve dual functions as a peroxidase, as well as a structural protein in mature spermatozoa. Mutations in this gene are associated with Sedaghatian type of spondylometaphyseal dysplasia (SMDS). This isozyme is also a selenoprotein, 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. Transcript variants resulting from alternative splicing or use of alternate promoters have been described to encode isoforms with different subcellular localization. [provided by RefSeq, Dec 2018]
  • synonyms:
  • snPHGPx,
  • MCSP,
  • GSHPx-4,
  • GPX4,
  • PHGPx,
  • SMDS,
  • snGPx,
  • phospholipid hydroperoxidase,
  • HGNC:4556,
  • glutathione peroxidase 4 (phospholipid hydroperoxidase),
  • BC039849,
  • uc021umg.3,
  • OTTHUMG00000181874,
  • MCSP,
  • PHGPx,
  • X71973,
  • NM_002085,
  • GPx-4
  • identifiers:
  • 2879,
  • ENSG00000167468,
  • GPX4

Genome feature

Region: gene ? Length: 2786  
Location: 19:1103994-1106779 Cyto location: 19p13.3

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1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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3756 SN Ps

5 Cross References

20 Data Sets

18 Homologues

0 Located Features

97 Rna Seq Results