PRDX5

Chr 11

peroxiredoxin 5

Also known as: ACR1, AOEB166, B166, HEL-S-55, PLP, PMP20, PRDX6, PRXV

NCBI Gene: 25824 ENSG00000126432 UniProt: P30044 OMIM: 606583

The protein is a thiol-specific peroxidase that catalyzes the reduction of hydrogen peroxide and organic hydroperoxides to water and alcohols, functioning as an antioxidant enzyme in mitochondria, peroxisomes, and cytoplasm. Mutations cause spondylometaphyseal dysplasia with cone-rod dystrophy, a skeletal dysplasia with retinal degeneration that follows autosomal recessive inheritance. This condition affects both the musculoskeletal system and vision, representing a rare multisystem disorder.

OMIM ResearchSummary from RefSeq, UniProt

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. [provided by RefSeq, Nov 2017]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.28

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.28LOEUF

pLI 0.000

Z-score 0.94

OE 0.68 (0.39–1.28)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.08Z-score

OE missense 0.98 (0.84–1.14)

119 obs / 121.5 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.68 (0.39–1.28)

0≤0.351.4

Missense OE?0.98 (0.84–1.14)

0≤0.61.4

Synonymous OE?1.19

0≤1.21.6

LoF obs/exp: 7 / 10.2Missense obs/exp: 119 / 121.5Syn Z: -1.08

Background carrier burden — how many people carry a rare variant somewhere in PRDX5?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 280

283 rare PASS variants

Rare truncating (LoF)

1 in 2,200

46 rare PASS variants

Rare synonymous (reference)

1 in 490

118 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for PRDX5. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 420	1 in 2,200
South Asian	~43k	1 in 130	1 in 3,100
Remaining (unassigned)	~30k	1 in 270	1 in 1,100
European (Finnish)	~27k	1 in 630	none seen
Admixed American	~22k	1 in 330	≈ 1 in 5,400
African / African American	~21k	1 in 120	1 in 2,100
East Asian	~20k	1 in 220	1 in 1,300
Ashkenazi Jewish	~13k	≈ 1 in 13,000	none seen
Middle Eastern	~2,884	1 in 190	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 6 coding exons well covered in gnomAD exomes and genomes.? see exons ↓