Whole-exome sequencing on five previously reported cases identified PIGL, the de-N-acetylase required for glycosylphosphatidylinositol (GPI) anchor formation, as a strong candidate.

2024年12月25日 · PIGL (Phosphatidylinositol Glycan Anchor Biosynthesis Class L) is a Protein Coding gene. Diseases associated with PIGL include Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome and Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 .

2020年5月28日 · PIG-L contains a transmembrane domain (a.a2–22) and the core de-N-acetylase domain (a.a44–168). To date, PIGL mutations have been reported in seventeen individuals mainly with CHIME syndrome (high ALP but no ichthyosiform dermatosis in four individuals made the presentation more suggestive of HPMRS) [4, 52, 53]. Resembling other …

2023年6月7日 · After analysis of the CRISPR‒Cas9 screen, phosphatidylinositol-glycan biosynthesis class L (PIGL) ranked first in the positive selection list. PIGL depletion had no effect on tumor cell...

Gene ID: 9487, updated on 8-Feb-2025. 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).

PIGL (Phosphatidylinositol Glycan Anchor Biosynthesis Class L Protein; MIM 605947) GPIBD5 (MIM 605947; 17p11.2), also known as CHIME syndrome due to its most recurrent symptoms, is a disorder caused by the PIGL gene.

HGNC Approved Gene Symbol: PIGL. Glycosylphosphatidylinositol (GPI) is used as a membrane anchor by many eukaryotic cell surface proteins. The first step in GPI biosynthesis involves the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI).

Clinical resource with information about PIGL, Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1., CHIME syndrome, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

Whole-exome sequencing on five previously reported CHIME cases identified PIGL (N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase) as required for glycosylphosphatidylinositol anchor formation. Title: Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.

Synonym (s): N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase, N-acetylglucosaminylphosphatidylinositol deacetylase, PIG-L. Previous symbol (s) and name (s): phosphatidylinositol glycan, class L. Type: gene with protein product. Chromosomal location: 17p11.2. OMIM: 605947. HGNC: 8966. UniProtKB: Q9Y2B2. Genatlas: PIGL. GenCC: PIGL.