PIGN Antibody, HRP conjugated

1. Loss of function PIGN alleles causes Fryns syndrome. Founder effect for PIGN intragenic deletion is observed in La Reunion and other Indian Ocean islands. PMID: 29330547
2. PIGN is a novel biomarker of CIN and leukemic transformation/progression in a subgroup of patients with MDS or AML-MRC. PMID: 28187452
3. 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. PMID: 27038415
4. Disease associated mutation L311W reduces enzymatic activity rather than affecting protein levels. PMID: 28327575
5. PIGN-1/PIGN is required for quality control in Caenorhabditis elegans and in mammalian cells. PMID: 27980068
6. PIGN mutation is associated with multiple congenital anomalies hypotonia seizures syndrome related epilepsy. PMID: 26394714
7. The mutated PIGN caused a significant decrease of the overall glycosylphoshatidylinositol-anchored proteins and CD24 expression which is sufficient to cause severe phenotypic expression. PMID: 26364997
8. 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. PMID: 24253414
9. PIGN encodes phosphatidylinositol-glycan biosynthesis class N protein. PMID: 22876578
10. Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN. PMID: 21493957

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HGNC: 8967

OMIM: 606097

KEGG: hsa:23556

STRING: 9606.ENSP00000350263

UniGene: Hs.157031