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 …

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

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...

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.

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).

2018年2月19日 · We report a CHIME syndrome patient who harbors a missense mutation c.500T > C (p.Leu167Pro) and a large deletion involving the 5’ untranslated region and part of exon 1 of PIGL.

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.

2024年5月31日 · This study focuses on two integral components of the GPI pathway, the PIGL and PIGF proteins, and their significance in trophoblast biology.