GPX4 gene

glutathione peroxidase 4

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a member of the glutathione peroxidase protein family. Glutathione peroxidase catalyzes the reduction of hydrogen peroxide, organic hydroperoxide, and lipid peroxides by reduced glutathione and functions in the protection of cells against oxidative damage. Human plasma glutathione peroxidase has been shown to be a selenium-containing enzyme and the UGA codon is translated into a selenocysteine. The encoded protein has been identified as a moonlighting protein based on its ability to serve dual functions as a peroxidase as well as a structural protein in mature spermatozoa. Through alternative splicing and transcription initiation, rat produces proteins that localize to the nucleus, mitochondrion, and cytoplasm. In humans, alternative transcription initiation and the cleavage sites of the mitochondrial and nuclear transit peptides need to be experimentally verified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

From UniProt:

Protects 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. Essential for maturation and survival of photoreceptor cells. Plays a role in a primary T cell response to viral and parasitic infection by protecting T cells from ferroptosis, a cell death resulting from an iron-dependent accumulation of lipid reactive oxygen species, and by supporting T cell expansion.

From NCBI Gene:

  • Spondylometaphyseal dysplasia Sedaghatian type

From UniProt:

Spondylometaphyseal dysplasia, Sedaghatian type (SMDS): 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. [MIM:250220]

Cytogenetic Location: 19p13.3, which is the short (p) arm of chromosome 19 at position 13.3

Molecular Location: base pairs 1,103,926 to 1,106,789 on chromosome 19 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 19p13.3, which is the short (p) arm of chromosome 19 at position 13.3
  • GPx-4
  • GSHPx-4
  • MCSP
  • PHGPx
  • SMDS
  • snGPx
  • snPHGPx