PIGL

Chr 17

phosphatidylinositol glycan anchor biosynthesis class L

Also known as: CHIME

NCBI Gene: 9487 ENSG00000108474 UniProt: Q9Y2B2

The protein catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis by performing de-N-acetylation of N-acetylglucosaminylphosphatidylinositol in the endoplasmic reticulum. Mutations cause CHIME syndrome through an autosomal recessive inheritance pattern. The pathogenic mechanism appears to be dominant negative.

ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene encodes an enzyme that catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which is the de-N-acetylation of N-acetylglucosaminylphosphatidylinositol (GlcNAc-PI). Study of a similar rat enzyme suggests that this protein localizes to the endoplasmic reticulum. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtColoboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome

Clinical highlights

Gene-disease validity (ClinGen)

syndromic intellectual disability · ARDefinitivesufficient evidence for diagnostic panels

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)

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P/LP submissions

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P/LP missense

1.51

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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