PIGV


Also found in: Acronyms.

PIGV

A gene on chromosome 1p36.11 that encodes a mannosyltransferase involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis and in GPI-precursor assembly.

Molecular pathology
Defects in PIGV cause hyperphosphatasia with mental retardation.
References in periodicals archive ?
(2010) Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.
The researchers assume that PIGV in the brain is responsible for the anchoring of many other proteins and that this malfunction is responsible for the mental retardation associated with Mabry Syndrome.