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PLPPR5

Synonyms
LPPR5, PAP2, PAP2D, PRG5
External resources
Summary
The protein encoded by this gene is a type 2 member of the phosphatidic acid phosphatase (PAP) family. All type 2 members of this protein family contain 6 transmembrane regions, and a consensus N-glycosylation site. PAPs convert phosphatidic acid to diacylglycerol, and function in de novo synthesis of glycerolipids as well as in receptor-activated signal transduction mediated by phospholipase D. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
4,145
Likely benign
1,177
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on PLPPR5 gene.

Phenotype class
Patients in 3billion (%)

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