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GPX4

Synonyms
GPx-4, GSHPx-4, MCSP, PHGPx, SMDS, snGPx, snPHGPx
External resources
Summary
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.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
13
Likely pathogenic
0
VUS
1,804
Likely benign
1,258
Benign
77

Patient Phenotypes

Proportions of phenotypes among 5 patients carrying pathogenic or likely pathogenic variants on GPX4 gene are displayed below. The following symptoms were found in patients with a variant in GPX4. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
40%
Abnormality of blood and blood forming tissues
20%
Abnormality of head or neck
20%
Abnormality of limbs
20%
Abnormality of metabolism homeostasis
20%
Abnormality of the cardiovascular system
20%
Abnormality of the genitourinary system
20%
Abnormality of the nervous system
20%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the eye
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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