ABHD16A

Chr 6

abhydrolase domain containing 16A, phospholipase

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

NCBI Gene: 7920 ENSG00000204427 UniProt: O95870

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.

ResearchSummary from RefSeq, OMIM, UniProt

A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for tumor necrosis factor alpha and tumor necrosis factor beta. These genes are all within the human major histocompatibility complex class III region. The protein encoded by this gene is thought to be involved in some aspects of immunity. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpastic paraplegia 86, autosomal recessive

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.38

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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