PLA2G5 Chromosome 1

Phospholipase A2 group V

4 variants 2 Health Risk 2 Trait

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What This Gene Does

This gene is a member of the secretory phospholipase A2 family. It is located in a tightly-linked cluster of secretory phospholipase A2 genes on chromosome 1. The encoded enzyme catalyzes the hydrolysis of membrane phospholipids to generate lysophospholipids and free fatty acids including arachidonic acid. It preferentially hydrolyzes linoleoyl-containing phosphatidylcholine substrates. Secretion of this enzyme is thought to induce inflammatory responses in neighboring cells. Alternatively spliced transcript variants have been found, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]

Gene Info

Gene Group

Phospholipases

Locus Type

gene with protein product

Location

1p36.13

Ensembl

ENSG00000127472

Associated Conditions (2)

Familial benign flecked retina

Late-onset retinal degeneration

Key Variants

RS149833360

Conflicting classifications of pathogenicity

Familial benign flecked retina, Familial benign flecked retina

Health Risk

RS1569848362

Pathogenic

Late-onset retinal degeneration, Late-onset retinal degeneration

Health Risk

All Variants (4)

RSID	Category	Clinical Significance	Conditions
RS149833360	Health Risk	Conflicting classifications of pathogenicity	Familial benign flecked retina, Familial benign flecked retina
RS1569848362	Health Risk	Pathogenic	Late-onset retinal degeneration, Late-onset retinal degeneration
RS746408116	Trait	Affects	Familial benign flecked retina, Familial benign flecked retina
RS766454085	Trait	Affects	Familial benign flecked retina, Familial benign flecked retina