ABHD16A

Chr 6AR

abhydrolase domain containing 16A, phospholipase

ENSG00000204427 UniProt: O95870 OMIM: 142620

ABHD16A encodes a phosphatidylserine lipase that hydrolyzes phosphatidylserine to generate lysophosphatidylserine, a signaling lipid that regulates neurological processes. Mutations cause autosomal recessive spastic paraplegia 86, characterized by progressive spasticity primarily affecting the lower extremities. The gene shows high constraint against loss-of-function variants (LOEUF 0.384), suggesting intolerance to protein-disrupting changes.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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)

OMIM ResearchGenerating clinical summary…

LOFmechanismARLOEUF 0.381 OMIM phenotype

Clinical Summary— ABHD16A

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.22) despite low pLI — interpret in context.

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