PIGN - phosphatidylinositol glycan anchor biosynthesis class N Gene

Homo sapiens

Also known as MCD4; MDC4; MCAHS; PIG-N; MCAHS1

Gene ID: 23556 | Gene type: protein coding

About PIGN

Cytogenetic location: 18q21.33 Genomic coordinates (GRCh38): 18:62,017,615-62,187,056 (from NCBI)

This gene has 51 transcripts (splice variants), 215 orthologues and is associated with 5 phenotypes. Ubiquitous expression in esophagus (RPKM 8.5), thyroid (RPKM 7.2) and 25 other tissues.

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. [provided by RefSeq, Jul 2008]

PIGN Products(2)

mRNA	Protein	Name
NM_012327.6	NP_036459.1	GPI ethanolamine phosphate transferase 1
NM_176787.5	NP_789744.1	GPI ethanolamine phosphate transferase 1

PIGN Protein Structure

Phosphodiest

PigN

0
200
400
600
800
931 a.a.

Protein Preferred Names

Protein Names

GPI ethanolamine phosphate transferase 1

MCD4 homolog

Related Diseases

Diseases

Alias

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1

MCAHS1	Glycosylphosphatidylinositol Biosynthesis Defect 3
Gpibd3	Multiple Congenital Anomalies, Hypotonia, Seizures Syndrome, Type 1

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome

Pign-Cdg	Congenital Disorder Of Glycosylation Due To Pign Deficiency
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Mcahs1

Fryns Syndrome

Diaphragmatic Hernia, Abnormal Face, And Distal Limb Anomalies	FRNS
Moerman Van Den Berghe Fryns Syndrome	Diaphragmatic Hernia-Abnormal Face-Distal Limb Anomalies Syndrome
Nephrotic Syndrome - Frequently Relapsing

Alkuraya-Kucinskas Syndrome

ALKKUCS	Kiaa1109-Related Early Lethal Congenital Brain Malformations-Arthrogryposis Syndrome
Arthrogryposis

Hypotonia

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4

MCAHS4	Glycosylphosphatidylinositol Biosynthesis Defect 19
Gpibd19	Developmental And Epileptic Encephalopathy 77
Epileptic Encephalopathy, Early Infantile, 77	Dee77
Eiee77	Developmental And Epileptic Encephalopathy, 77
Early Infantile Epileptic Encephalopathy 77	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome-4

Developmental And Epileptic Encephalopathy 80

DEE80	Glycosylphosphatidylinositol Biosynthesis Defect 20
Gpibd20	Epileptic Encephalopathy, Early Infantile, 80
Eiee80	Developmental And Epileptic Encephalopathy, 80
Early Infantile Epileptic Encephalopathy 80

Diaphragm Disease

Abnormality Of The Diaphragm	Disease Of Diaphragm
Diaphragmatic Disorder	Disorder Of Diaphragm

Dihydropyrimidinase Deficiency

Dihydropyrimidinuria	Dpys Deficiency
Dph Deficiency	DPYSD
Dihydrouracil Amidohydrolase Deficiency	Dihydropyrimidinuria Due To Dpys Deficiency

Diaphragmatic Hernia, Congenital

Congenital Diaphragmatic Hernia	Diaphragmatic Hernia
Cdh	Congenital Diaphragmatic Defect
Hernia, Diaphragmatic	Dih
Hernia, Congenital Diaphragmatic	Hcd
Diaphragmatic Defect, Congenital	Diaphragm, Unilateral Agenesis Of
Hemidiaphragm, Agenesis Of	Diaphragmatic Hernia 1
Agenesis Of Hemidiaphragm	Unilateral Agenesis Of Diaphragm
Hernia Diaphragmatic	Hernia Diaphragmatic Congenital
Hernia, Diaphragmatic, Type 1	Hiatus Hernia
Oesophageal Hiatus Hernia	Paraoesophageal Hernia
Sliding Hiatus Hernia	Congenital Diaphragm Hernia
Congenital Diaphragm Defect With Hernia	Gross Congenital Diaphragm Defect

Agnathia-Otocephaly Complex

Otocephaly	Holoprosencephaly-Agnathia
Dysgnathia Complex Agnathia-Holoprosencephaly	AGOTC
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Dysgnathia Complex
Agnathia-Holoprosencephaly	Cervical Auricle

Familial Febrile Seizures

Familial Febrile Convulsions	Feb
Febrile Seizures, Familial

Autosomal Recessive Intellectual Developmental Disorder

Mental Retardation, Autosomal Recessive	Autosomal Recessive Mental Retardation
Autosomal Recessive Non-Syndromic Mental Retardation	Autosomal Recessive Non-Syndromic Intellectual Disability

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10496	PIGN Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	PIGN	VGNC	VGNC:32873
Rattus norvegicus	PIGN	RGD	RGD:1311346
Felis catus	PIGN	VGNC	VGNC:68847
Canis familiaris	PIGN	VGNC	VGNC:44538
Mus musculus	PIGN	MGD	MGI:1351629
Macaca mulatta	PIGN	VGNC	VGNC:75990