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

doi:10.1016/j.ajhg.2013.12.012

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Article

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

American journal of human genetics - 6 Feb 2014

Howard Malcolm F, Murakami Yoshiko, Pagnamenta Alistair T, Daumer-Haas Cornelia, Fischer Björn, Hecht Jochen, Keays David A, Knight Samantha J L, Kölsch Uwe, Krüger Ulrike, Leiz Steffen, Maeda Yusuke, Mitchell Daphne, Mundlos Stefan, Phillips John A, Robinson Peter N, Kini Usha, Taylor Jenny C, Horn Denise, Kinoshita Taroh, Krawitz Peter M

Abstract excerpt

Glycosylphophatidylinositol (GPI)-anchored proteins play important roles in many biological processes, and mutations affecting proteins involved in the synthesis of the GPI anchor are reported to cause a wide spectrum of intellectual disabilities (IDs) with characteristic additional phenotypic features. Here, we describe a total of five individuals (from three unrelated families) in whom we identified mutations...

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Identifiers

PMID: 24439110
DOI: 10.1016/j.ajhg.2013.12.012
PMCID: PMC3928656

Genes

GPI
PGAP3
PGAP2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.PMID 24439110Read ↗

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