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Loss of function PIGN alleles causes Fryns syndrome. Founder effect for PIGN intragenic deletion is observed in La Reunion and other Indian Ocean islands.
PIGN is a novel biomarker of CIN and leukemic transformation/progression in a subgroup of patients with MDS or AML-MRC.
Study reports compound heterozygous mutations in PIGN in two siblings with Fryns syndrome, and a homozygous mutation in an unrelated affected individual. However, two further individuals with Fryns syndrome did not carry mutations in this gene, suggesting genetic heterogeneity in this syndrome.
Disease associated mutation L311W reduces enzymatic activity rather than affecting protein levels.
PIGN-1/PIGN is required for quality control in Caenorhabditis elegans and in mammalian cells.
PIGN mutation is associated with multiple congenital anomalies hypotonia seizures syndrome related epilepsy.
The mutated PIGN caused a significant decrease of the overall glycosylphoshatidylinositol-anchored proteins and CD24 expression which is sufficient to cause severe phenotypic expression.
Findings confirm that developmental delay, hypotonia, and epilepsy combined with congenital anomalies are common phenotypes of PIGN mutations and add progressive cerebellar atrophy to this clinical spectrum.
PIGN encodes phosphatidylinositol-glycan biosynthesis class N protein.
Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.
This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is expressed in the endoplasmic reticulum and transfers phosphoethanolamine (EtNP) to the first mannose of the GPI anchor. Two alternatively spliced variants, which encode an identical isoform, have been reported.
, GPI ethanolamine phosphate transferase 1
, MCD4 homolog
, phosphatidylinositol-glycan biosynthesis class N protein
, phosphatidylinositol glycan, class N