Phospholipase A2, Group VI

Alternative Names

  • PLA2G6
  • Phospholipase A2, Calcium-Independent
  • IPLA2
  • Patatin-Like Phospholipase Domain-Containing Protein 9
  • PNPLA9
  • Phospholipase A2, Calcium-Independent, Group VI, A
  • IPLA2-VIA
Back to search Result
OMIM Number

603604

NCBI Gene ID

8398

Uniprot ID

O60733

Length

103,284 bases

No. of Exons

18

No. of isoforms

4

Protein Name

85/88 kDa calcium-independent phospholipase A2

Molecular Mass

89903 Da

Amino Acid Count

806

Genomic Location

chr22:38,111,495-38,214,778

Gene Map Locus
22q13.1

Description

The PLA2G6 gene encodes Phospholipase A2, Group VI, an enzyme with calcium-independent phospholipase A2 activity.  Phospholipases are enzymes involved in metabolizing phospholipids to release fatty acids.  By carrying out its function, the PLA2G6 gene is believed to play a role in the regulation of arachidonic acid secretion, glucose-stimulated insulin secretion, glutamatergic synaptic transmission, phosphatidylcholine acyl-chain remodelling and cardiolipin biosynthetic process.

The gene is implicated in the autosomal recessive disorders Neurodegeneration with Brain Iron Accumulation 2A (NBIA2A) and Neurodegeneration with Brain Iron Accumulation 2B (NBIA2B).  NBIA2A is an infantile-onset fatal disorder characterized by axonal swelling and spheroid bodies in the central nervous system, while NBIA2B is a similar milder disorder with a later onset.  PLA2G6 is also associated with Parkinson Disease 14, Autosomal Recessive (PARK14), a form of adult-onset dystonia-parkinsonism.

Molecular Genetics

The PLA2G6 gene is located on the long arm of chromosome 22.  It spans a length of 94 kb and its coding sequence is spread across 28 exons.  The gene encodes an 89.9 kDa protein product containing 806 amino acids.  Four different tissue-specific isoforms of the PLA2G6 protein exist due to alternative splicing.  While the gene is widely expressed in the human body, overexpression is seen in the ovary, testis, retina and frontal cortex of the brain.

Around 50 variants in the PLA2G6 gene have been associated with NBIA2A, most of which are truncating mutations that impair enzyme function.  Variants associated with NBIA2B and PARK14 are generally missense mutations that have a comparatively milder effect on enzyme function. 

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_003560.4:c.2370T>GLebanonNC_000022.11:g.38112212A>CLikely Pathogenic, Pathogenic, Uncertain SignificancePathogenicNeurodegeneration with Brain Iron Accumulation 2ANG_007094.3:g.107567T>G; NM_003560.4:c.2370T>G; NP_003551.2:p.Tyr790Ter1219086806195
© CAGS 2023. All rights reserved.