Gene: PIGV

Alternate names for this Gene: GPI-MT-II|HPMRS1|PIG-V

Gene Summary: This gene encodes a mannosyltransferase enzyme involved in the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is a complex glycolipid that functions as a membrane anchor for many proteins and plays a role in multiple cellular processes including protein sorting and signal transduction. The encoded protein is localized to the endoplasmic reticulum and transfers the second mannose to the GPI backbone. Mutations in this gene are associated with hyperphosphatasia cognitive disability syndrome. Alternatively spliced transcript variants have been observed for this gene.

Gene is located in Chromosome: 1

Location in Chromosome : 1p36.11

Description of this Gene: phosphatidylinositol glycan anchor biosynthesis class V

Type of Gene: protein-coding

rs146091102 in PIGV gene and Blood basophil count (lab test) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs139073416 in PIGV gene and HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 PMID 20802478 2010 Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.

PMID 22315194 2012 Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome).

PMID 21739589 2011 Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum.

PMID 24129430 2014 Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.

PMID 22228761 2012 Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome.

rs112535818 in PIGV gene and Hair Color PMID 30531825 2018 Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.

rs139073416 in PIGV gene and Hyperphosphatasia with Mental Retardation PMID 20802478 2010 Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.

PMID 22315194 2012 Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome).

PMID 21739589 2011 Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum.

PMID 22228761 2012 Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome.

PMID 24129430 2014 Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.

rs146091102 in PIGV gene and Neutrophil count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.