Gene: PIGN

Alternate names for this Gene: MCAHS|MCAHS1|MCD4|MDC4|PIG-N

Gene Summary: 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.

Gene is located in Chromosome: 18

Location in Chromosome : 18q21.33

Description of this Gene: phosphatidylinositol glycan anchor biosynthesis class N

Type of Gene: protein-coding

rs1555682938 in PIGN gene and Dysmorphic features PMID 27038415 2016 Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.

PMID 26419326 2016 A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency.

PMID 25920937 2015 The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review.

PMID 26879448 2016 Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes.

PMID 26394714 2016 Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.

PMID 10574991 1999 Pig-n, a mammalian homologue of yeast Mcd4p, is involved in transferring phosphoethanolamine to the first mannose of the glycosylphosphatidylinositol.

PMID 18635593 2008 Biosynthesis, remodelling and functions of mammalian GPI-anchored proteins: recent progress.

PMID 26364997 2016 A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family.

PMID 21493957 2011 Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.

PMID 24253414 2014 PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy.

PMID 24852103 2014 Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia.

rs1568224018 in PIGN gene and MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 PMID 24253414 2014 PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy.

PMID 27038415 2016 Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.

PMID 21493957 2011 Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.

PMID 26419326 2016 A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency.

PMID 28327575 2017 Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.

PMID 26879448 2016 Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes.

PMID 26394714 2016 Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.

rs1555682938 in PIGN gene and Movement Disorders PMID 18635593 2008 Biosynthesis, remodelling and functions of mammalian GPI-anchored proteins: recent progress.

PMID 10574991 1999 Pig-n, a mammalian homologue of yeast Mcd4p, is involved in transferring phosphoethanolamine to the first mannose of the glycosylphosphatidylinositol.

PMID 26419326 2016 A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency.

PMID 25920937 2015 The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review.

PMID 27038415 2016 Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.

PMID 26879448 2016 Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes.

PMID 21493957 2011 Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.

PMID 24253414 2014 PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy.

PMID 24852103 2014 Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia.

PMID 26394714 2016 Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.

PMID 26364997 2016 A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family.

rs1555682938 in PIGN gene and Muscle hypotonia PMID 26879448 2016 Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes.

PMID 24852103 2014 Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia.

PMID 26364997 2016 A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family.

PMID 21493957 2011 Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.

PMID 18635593 2008 Biosynthesis, remodelling and functions of mammalian GPI-anchored proteins: recent progress.

PMID 26394714 2016 Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.

PMID 27038415 2016 Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.

PMID 10574991 1999 Pig-n, a mammalian homologue of yeast Mcd4p, is involved in transferring phosphoethanolamine to the first mannose of the glycosylphosphatidylinositol.

PMID 26419326 2016 A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency.

PMID 24253414 2014 PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy.

PMID 25920937 2015 The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review.

rs4941107 in PIGN gene and Osteitis Deformans PMID 20436471 2010 Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone.

rs4941107 in PIGN gene and Paget Disease PMID 20436471 2010 Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone.