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Article

Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.

American journal of human genetics - 4 Apr 2013

Hansen Lars, Tawamie Hasan, Murakami Yoshiko, Mang Yuan, ur Rehman Shoaib, Buchert Rebecca, Schaffer Stefanie, Muhammad Safia, Bak Mads, Nöthen Markus M, Bennett Eric P, Maeda Yusuke, Aigner Michael, Reis André, Kinoshita Taroh, Tommerup Niels, Baig Shahid Mahmood, Abou Jamra Rami

Abstract excerpt

PGAP2 encodes a protein involved in remodeling the glycosylphosphatidylinositol (GPI) anchor in the Golgi apparatus. After synthesis in the endoplasmic reticulum (ER), GPI anchors are transferred to the proteins and are remodeled while transported through the Golgi to the cell membrane. Germline mutations in six genes (PIGA, PIGL, PIGM, PIGV, PIGN, and PIGO) in the ER-located part of the GPI-anchor-biosynthesis...

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Source

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Identifiers

PMID: 23561846
DOI: 10.1016/j.ajhg.2013.03.008
PMCID: PMC3617372

Genes

GPI
PGAP2
PIGA
PIGL
PIGM
PIGN
PIGO
PIGV

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.PMID 23561846Read ↗

Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes.Semantic proximity Read ↗

Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy.Semantic proximity Read ↗

Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.Semantic proximity Read ↗

Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes.Semantic proximity Read ↗

Expanding the Genotypic and Phenotypic Spectrum of PGAP1 Deficiency: Clinical and Functional Insights from 15 PatientsSemantic proximity Read ↗

PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels.Semantic proximity Read ↗

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.Semantic proximity Read ↗

A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.Semantic proximity Read ↗

Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.Semantic proximity Read ↗

Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.Semantic proximity Read ↗

PIGQ-Related Glycophosphatidylinositol Deficiency Associated with Nonprogressive Congenital Ataxia.Semantic proximity Read ↗

Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.Semantic proximity Read ↗

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