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GPX5

Synonyms
EGLP, GPx-5, GSHPx-5, HEL-S-75p
External resources
Summary
This gene belongs to the glutathione peroxidase family. It is specifically expressed in the epididymis in the mammalian male reproductive tract, and is androgen-regulated. Unlike several other characterized glutathione peroxidases, this enzyme is not a selenoprotein, lacking the selenocysteine residue. Thus, it is selenium-independent, and has been proposed to play a role in protecting the membranes of spermatozoa from the damaging effects of lipid peroxidation and/or preventing premature acrosome reaction. Alternatively spliced transcript variants have been found for this gene.

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
17
Likely pathogenic
0
VUS
741
Likely benign
51
Benign
0

Patient Phenotypes

Proportions of phenotypes among 17 patients carrying pathogenic or likely pathogenic variants on GPX5 gene are displayed below. The following symptoms were found in patients with a variant in GPX5. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of metabolism homeostasis
29.4%
Abnormality of the integument
29.4%
Abnormality of the nervous system
29.4%
Abnormality of blood and blood forming tissues
23.5%
Abnormality of the cardiovascular system
23.5%
Abnormality of the ear
23.5%
Abnormality of the eye
23.5%
Abnormality of head or neck
17.6%
Abnormality of the digestive system
17.6%
Abnormality of the immune system
17.6%
Abnormality of the musculoskeletal system
17.6%
Abnormality of limbs
11.8%
Abnormality of the genitourinary system
11.8%
Abnormality of prenatal development or birth
5.9%
Abnormality of the endocrine system
5.9%
Growth abnormality
5.9%
Neoplasm
5.9%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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