PLPP6

Chr 9

phospholipid phosphatase 6

Also known as: LPRP-B, PA-PSP, PDP1, PPAPDC2, PSDP, bA6J24.6

NCBI Gene: 403313ENSG00000205808UniProt: Q8IY26

Enables isoprenoid diphosphate phosphatase activity and phosphatase activity. Involved in several processes, including phospholipid dephosphorylation; phospholipid metabolic process; and positive regulation of neutrophil activation. Located in endoplasmic reticulum membrane and nuclear membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.74
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.74LOEUF
pLI 0.001
Z-score 0.21
OE 0.91 (0.47–1.74)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.62Z-score
OE missense 1.13 (1.01–1.28)
190 obs / 167.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.91 (0.47–1.74)
0≤0.351.4
Missense OE?1.13 (1.01–1.28)
0≤0.61.4
Synonymous OE?1.26
0≤1.21.6
LoF obs/exp: 5 / 5.5Missense obs/exp: 190 / 167.6Syn Z: -1.86

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PLPP6 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients