On this page
PLAA
phospholipase A2 activating protein
PLAA is located on the short (p) arm of chromosome 9, at band 9p21.2. Arm ratio per GRCh38 - banding schematic.
Explore chromosome 9 in the library →Available at Jeen Health
Clinical tests that include this
Overview
PLAA (phospholipase A2 activating protein) is located on chromosome 9 and encodes a protein that contributes to cellular housekeeping processes. The protein participates in protein quality control pathways and interacts with enzymes that modify membrane lipids. While much remains to be understood about PLAA's precise biological roles, emerging evidence indicates it functions within networks that maintain cellular protein homeostasis.
The gene's name reflects early observations that the protein can modulate phospholipase A2 activity, an enzyme family important for lipid signalling and membrane remodelling. However, subsequent research has revealed broader functions in protein trafficking and degradation pathways, suggesting PLAA coordinates multiple aspects of cellular maintenance.
What the gene does
The PLAA protein appears to function primarily in protein quality control mechanisms. Research suggests it participates in pathways that identify and process misfolded or damaged proteins, helping cells maintain a healthy complement of functional proteins. This activity is thought to involve interactions with the ubiquitin-proteasome system, a major cellular degradation pathway that tags unwanted proteins for breakdown.
Additionally, PLAA may influence membrane dynamics through its interaction with phospholipase A2 enzymes. These enzymes cleave phospholipids to generate signalling molecules and modify membrane composition. By regulating phospholipase A2 activity, PLAA potentially contributes to cellular responses involving membrane remodelling, though the physiological contexts for this regulation require further investigation.
The protein is thought to act as an adaptor or regulatory factor, bringing together different cellular machinery to coordinate protein degradation and membrane signalling events. This integrative role may be particularly important when cells experience stress or need to rapidly adjust their protein and lipid landscapes.
Video: Genetics 101
Chromosome location
PLAA is located on the short arm of chromosome 9 at position 21.2 (9p21.2). This chromosomal region contains several genes involved in cellular regulation and metabolism. Specific structural features of the PLAA gene, including its total exon count and transcript variants, have not been comprehensively catalogued in public databases at this time.
Protein structure
Domain architecture has not been experimentally characterised in detail for this protein. The amino acid sequence of PLAA is known, but specific functional domains have not been definitively mapped or annotated in current protein databases. Future structural studies may reveal discrete regions responsible for protein-protein interactions, ubiquitin binding, or enzymatic regulation.
Key variants
Genetic variants in PLAA are documented in variant databases, though the clinical significance of most changes remains uncertain. As with many genes not currently associated with well-defined inherited conditions, the majority of reported PLAA variants are classified as variants of uncertain significance, meaning their impact on protein function and human health is not yet established. Ongoing research and data accumulation may clarify the pathogenicity of specific changes over time.
Sample of pathogenic variants
9 pathogenic / likely-pathogenic variants from ClinVar, ranked by review status (expert-panel-reviewed first). This is a sample; recurrent founder variants in a specific population may not appear here - see the full ClinVar listing via the link above.
| Variant (HGVS) | Protein change | Classification | Evidence | Associated condition |
|---|---|---|---|---|
c.120C>G | p.Asp40Glu | Pathogenic | ★☆☆☆ | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies |
c.240_241insTAG | p.Pro81Ter | Pathogenic | ★☆☆☆ | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies |
c.802C>T | p.Arg268Ter | Pathogenic | ★☆☆☆ | Inborn genetic diseases |
c.1049A>T | p.Glu350Val | Pathogenic | - | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies |
c.2254C>T | p.Leu752Phe | Pathogenic | - | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies |
c.68dup | p.Leu24fs | Pathogenic | - | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies |
c.68G>T | p.Gly23Val | Pathogenic | - | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies |
c.829T>C | p.Cys277Arg | Pathogenic | - | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies |
c.861T>A | p.Val287= | Pathogenic | - | not provided |
Evidence stars indicate ClinVar review status. Individual variant interpretation should always be performed by a qualified clinical laboratory - many variants remain classified as Variants of Uncertain Significance (VUS) pending more research.
Associated conditions
PLAA is not currently associated with any established inherited conditions in major clinical databases. The gene does not appear on NHS Genomic Medicine Service gene panels for carrier screening or other clinical genomic testing pathways. As understanding of human genetic disease continues to evolve, future research may reveal disease associations, but at present PLAA variants are not used for clinical diagnosis or risk assessment.
No disease links recorded for this gene in our reference set.
UK clinical status
Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory
Frequently asked questions
What does the PLAA gene do?
PLAA encodes a protein involved in cellular protein quality control and regulation of membrane-modifying enzymes. Research suggests it helps cells manage misfolded proteins and coordinate lipid signalling events, though many aspects of its function are still being investigated.
Is PLAA associated with any genetic conditions?
PLAA is not currently linked to any recognised inherited conditions in clinical databases. It does not appear on NHS gene panels for carrier screening or diagnostic testing.
Where is the PLAA gene located?
The PLAA gene is located on chromosome 9 at position 9p21.2, on the short arm of the chromosome.