1. Gene
  2. PIGS - phosphatidylinositol glycan anchor biosynthesis class S Gene

PIGS - phosphatidylinositol glycan anchor biosynthesis class S Gene

Homo sapiens

Also known as DEE95; PIG-S; GPIBD18

Gene ID: 94005 | Gene type: protein coding

About PIGS

Cytogenetic location: 17q11.2 Genomic coordinates (GRCh38): 17:28,553,387-28,571,524 (from NCBI)

This gene has 35 transcripts (splice variants), 196 orthologues and is associated with 2 phenotypes. Ubiquitous expression in fat (RPKM 16.8), kidney (RPKM 16.1) and 25 other tissues.

Summary

This gene encodes a protein that is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes an essential component of the multisubunit Enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. [provided by RefSeq, Jul 2008]

PIGS Products(1)

mRNA Protein Name
NM_033198.4 NP_149975.1 GPI transamidase component PIG-S

PIGS Protein Structure

PIG-S

PIG-S: Phosphatidylinositol-glycan biosynthesis class S protein (21 - 550)

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  • 555 a.a.
Protein Preferred Names Protein Names

GPI transamidase component PIG-S

GPI transamidase subunit

Related Diseases

Diseases Alias
Developmental And Epileptic Encephalopathy 95

Glycosylphosphatidylinositol Biosynthesis Defect 18

GPIBD18

DEE95

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 55

DEE55

Glycosylphosphatidylinositol Biosynthesis Defect 14

Gpibd14

Epileptic Encephalopathy, Early Infantile, 55

Eiee55

Developmental And Epileptic Encephalopathy, 55

Early Infantile Epileptic Encephalopathy 55

Encephalopathy, Epileptic, Early Infantile, Type 55

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

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile

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