ABHD16A

Chr 6p21.33

abhydrolase domain containing 16A, phospholipase

Aliases:: NG26, D6S82E
MANE:: ENST00000395952.8

OMIM: 142620 ↗NCBI: 7920 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

ABHD16A · O95870

v62025-08-01

Predicted Aligned Error matrix for ABHD16A — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

89.6/ 100

Confident

558 residues

Confidence breakdown

Very high(≥ 90)78%
Confident(70–90)12%
Low(50–70)4%
Very low(< 50)6%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Childhood onset hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

spastic paraplegia 86, autosomal recessive
0.68
Spastic paraplegia
0.57
Intellectual disability
0.53
complex hereditary spastic paraplegia
0.42
Autosomal recessive spastic paraplegia type 11
0.37
autosomal recessive complex spastic paraplegia
0.27
hereditary disease
0.19
neurodevelopmental disorder
0.12
gastric cancer
0.07
lipodystrophy, congenital generalized, type 5
0.03

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Phosphatidylserine lipase ABHD16A

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)