ABHD16A

Chr 6AR

abhydrolase domain containing 16A, phospholipase

Also known as: BAT5, D6S82E, NG26, PP199, SPG86, hBAT5

NCBI Gene: 7920ENSG00000204427UniProt: O95870OMIM: 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.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismARLOEUF 0.381 OMIM phenotype
Clinical Summary— ABHD16A
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.22) despite low pLI — interpret in context.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.38LOEUF
pLI 0.473
Z-score 4.63
OE 0.22 (0.13–0.38)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
2.48Z-score
OE missense 0.62 (0.55–0.69)
207 obs / 334.6 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.22 (0.13–0.38)
0≤0.351.4
Missense OE0.62 (0.55–0.69)
0≤0.61.4
Synonymous OE0.88
0≤1.21.6
LoF obs/exp: 9 / 40.9Missense obs/exp: 207 / 334.6Syn Z: 1.02

ClinVar Variant Classifications

0 submitted variants in ClinVar

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.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Expansion of the genetic and phenotypic spectrum of hereditary spastic paraplegia caused by ABHD16A gene variants: an integrated analysis based on novel variants and literature review.
He M et al.·Front Pediatr
2025Open AccessReview
The Unconventional Role of ABHD17A in Increasing the S-Palmitoylation and Antiviral Activity of IFITM1 by Downregulating ABHD16A.
Shi X et al.·Biomolecules
2025Open Access
Depalmitoylase ABHD16A negatively regulates the anti-hepatitis B virus activity of IFITM1.
Wen X et al.·Microbiol Spectr
2025Open Access
Swine RNF5 positively regulates the antiviral activity of IFITM1 by mediating the degradation of ABHD16A.
Shi X et al.·J Virol
2025Open Access
Probing the Interactions of Thiazole Abietane Inhibitors with the Human Serine Hydrolases ABHD16A and ABHD12.
Ahonen TJ et al.·ACS Med Chem Lett
2023Open Access
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients