Home > Gene Browser > PRDX5

PRDX5

Synonyms
ACR1, AOEB166, B166, HEL-S-55, PLP, PMP20, PRDX6, PRXV, SBBI10, prx-V
External resources
Summary
This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein interacts with peroxisome receptor 1 and plays an antioxidant protective role in different tissues under normal conditions and during inflammatory processes. The use of alternate transcription start sites is thought to result in transcript variants that use different in-frame translational start codons to generate isoforms that are targeted to the mitochondrion (isoform L) or peroxisome/cytoplasm (isoform S). Multiple related pseudogenes have been defined 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
10
Likely pathogenic
0
VUS
5,786
Likely benign
622
Benign
0

Patient phenotypes

Proportions of phenotypes among 9 patients carring pathogenic or likely pathogenic variants on PRDX5 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
66.7%
Abnormality of head or neck
55.6%
Abnormality of the integument
55.6%
Abnormality of the musculoskeletal system
55.6%
Growth abnormality
55.6%
Abnormality of limbs
33.3%
Abnormality of the cardiovascular system
33.3%
Abnormality of the digestive system
33.3%
Abnormality of the genitourinary system
33.3%
Abnormality of the ear
22.2%
Abnormality of the endocrine system
22.2%
Abnormality of the eye
22.2%
Abnormality of blood and blood-forming tissues
11.1%
Abnormality of prenatal development or birth
11.1%
Abnormality of the breast
11.1%
Abnormality of the immune system
11.1%
Neoplasm
11.1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
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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