protein
Phosphatidylserine lipase ABHD16A
Gene
ABHD16A
Organism
Homo sapiens(9606)
Length
558 aa
Mass
63,243 Da
Phosphatidylserine lipase ABHD16A (O95870) is a serine hydrolase that catalyzes the breakdown of phosphatidylserine to lysophosphatidylserine, a signaling lipid with immunological and neurological functions. The enzyme also demonstrates monoacylglycerol lipase activity toward specific lipid substrates (UniProt: O95870). ABHD16A is expressed across various tissues and is implicated in lipid signaling pathways relevant to cellular homeostasis and immune regulation.
In addition to its housekeeping functions, ABHD16A mutations are associated with spastic paraplegia 86 (SPG86), an autosomal recessive neurodegenerative disorder characterized by progressive lower-limb weakness, spasticity, and white matter abnormalities, often accompanied by cognitive impairment and seizures (UniProt: O95870, MIM 619735). This genetic link highlights the protein's importance in neurological function.
ABHD16A is downregulated in Alzheimer's disease brain tissue (mean log2FC −0.31, Chaparral AD proteomics). The protein was measured in post-mortem AD brain versus age-matched controls using tandem mass spectrometry across multiple subcellular fractions, indicating reduced expression may contribute to the pathophysiology of neurodegeneration in AD.
Generated from the curated entity record below. May contain errors — verify against source links.
Proteomics Evidence · AD
↓ Down in ADP3
not detected
P2
not detected
S2
not detected
S3
-0.309
Mean log₂FC across detected fractions: -0.3094 (1 of 4 fractions detected)
Human post-mortem AD brain vs age-matched controls, TMT-labeled, 4 subcellular fractions (P2, P3, S2, S3), DDA proteomics.
Related Publications
Browse all →Tau molecular diversity contributes to clinical heterogeneity in Alzheimer's disease.
Dujardin Simon et al.Nature medicine2020PMID 32572268Deep Multilayer Brain Proteomics Identifies Molecular Networks in Alzheimer's Disease Progression.
Bai Bing et al.Neuron2020PMID 31926610A Multi-network Approach Identifies Protein-Specific Co-expression in Asymptomatic and Symptomatic Alzheimer's Disease.
Seyfried Nicholas T et al.Cell systems2017PMID 27989508Large-scale deep multi-layer analysis of Alzheimer's disease brain reveals strong proteomic disease-related changes not observed at the RNA level.
Johnson Erik C B et al.Nature neuroscience2022PMID 35115731Organization and regulation of gene transcription.
Cramer PatrickNature2019PMID 31462772
Function
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)
Disease associations
Spastic paraplegia 86, autosomal recessiveSPG86
A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG86 is an autosomal recessive form associated with impaired intellectual development, poor or absent speech, and behavioral abnormalities. Brain imaging shows thin corpus callosum and white matter abnormalities. Rare patients may have seizures.
Sources
Last updated 5/8/2026, 6:39:00 AM