PIGV | definition of PIGV by Medical dictionary
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.
Defects in PIGV cause hyperphosphatasia with mental retardation.
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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.