ABHD16A

Chr 6AR

abhydrolase domain containing 16A, phospholipase

Phosphatidylserine (PS) lipase that mediates the hydrolysis of phosphatidylserine to generate lysophosphatidylserine (LPS) (By similarity). LPS constitutes a class of signaling lipids that regulates immunological and neurological processes (By similarity). Has no activity towards diacylglycerol, triacylglycerol or lysophosphatidylserine lipase (PubMed:25290914). Also has monoacylglycerol lipase activity, with preference for 1-(9Z,12Z-octadecadienoyl)-glycerol (1-LG) and 2-glyceryl-15-deoxy-Delta(12,14)-prostaglandin J2 (15d-PGJ(2)-G) (PubMed:25290914)

OMIMResearchGenerating clinical summary…
LOFmechanismARLOEUF 0.381 OMIM phenotype
Clinical SummaryABHD16A
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.22) despite low pLI — interpret in context.
Some data sources returned errors (1)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint?
0.38LOEUF
pLI 0.473
Z-score 4.63
OE 0.22 (0.130.38)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.48Z-score
OE missense 0.62 (0.550.69)
207 obs / 334.6 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.22 (0.130.38)
00.351.4
Missense OE?0.62 (0.550.69)
00.61.4
Synonymous OE?0.88
01.21.6
LoF obs/exp: 9 / 40.9Missense obs/exp: 207 / 334.6Syn Z: 1.02

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ABHD16A · 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

No active trials found for this gene.

Search ClinicalTrials.gov →