PGAP1

Chr 2

post-GPI attachment to proteins inositol deacylase 1

Also known as: Bst1, ISPD3024, MRT42, NEDDSBA, SPG67

NCBI Gene: 80055 ENSG00000197121 UniProt: Q75T13

The protein catalyzes inositol deacylation in the glycosylphosphatidylinositol (GPI) biosynthetic pathway and is required for endoplasmic reticulum-to-Golgi transport of GPI-anchored proteins. Mutations cause autosomal recessive neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities. The gene is highly intolerant to loss-of-function variation (LOEUF 0.6), reflecting its essential role in cellular protein trafficking.

ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene functions early in the glycosylphosphatidylinositol (GPI) biosynthetic pathway, catalyzing the inositol deacylation of GPI. The encoded protein is required for the production of GPI that can attach to proteins, and this may be an important factor in the transport of GPI-anchored proteins from the endoplasmic reticulum to the Golgi. Defects in this gene are a cause an autosomal recessive form of cognitive impairment. [provided by RefSeq, Jul 2017]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.60

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429