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PRDX3

Synonyms
AOP-1, AOP1, HBC189, MER5, PRO1748, SP-22, prx-III
External resources
Summary
This gene encodes a mitochondrial protein with antioxidant function. The protein is similar to the C22 subunit of Salmonella typhimurium alkylhydroperoxide reductase, and it can rescue bacterial resistance to alkylhydroperoxide in E. coli that lack the C22 subunit. The human and mouse genes are highly conserved, and they map to the regions syntenic between mouse and human chromosomes. Sequence comparisons with recently cloned mammalian homologs suggest that these genes consist of a family that is responsible for the regulation of cellular proliferation, differentiation and antioxidant functions. This family member can protect cells from oxidative stress, and it can promote cell survival in prostate cancer. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1, 3, 13 and 22.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
5
Likely pathogenic
0
VUS
5,534
Likely benign
1,931
Benign
0

Patient phenotypes

Proportions of phenotypes among 5 patients carrying pathogenic or likely pathogenic variants on PRDX3 gene are displayed below.

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

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