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Data indicate that mannosyltransferases PIGV mutations are the major cause of hyperphosphatasia-mental retardation syndrome (HPMRS) which displays a broad clinical variability regarding associated malformations and growth patterns.
PIGV is the rate-limiting enzyme in GPI (show GNPDA1 Proteins) biosynthesis under limited dolicholphosphate mannose availability.
Hyperphosphatasia resulted from secretion of ALP (show ALP Proteins), a GPI (show GNPDA1 Proteins)-anchored protein normally expressed on the cell surface, into serum due to PIGV deficiency.
novel compound heterozygous mutations in the PIGV gene c.467G>A and c.1022C>A and a homozygous mutation c.1022C>A in hyperphosphatasia-mental retardation syndrome
PIGV mutations are associated with hyperphosphatasia mental retardation syndrome.
PIG-V is the second mannosyltransferase in GPI anchor biosynthesis (show PIGA Proteins).
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 mental retardation syndrome. Alternatively spliced transcript variants have been observed for this gene.
GPI mannosyltransferase 2
, GPI mannosyltransferase II
, Ybr004c homolog
, dol-P-Man dependent GPI mannosyltransferase
, phosphatidylinositol glycan class V
, phosphatidylinositol glycan, class V
, phosphatidylinositol-glycan biosynthesis class V protein