PIGC - phosphatidylinositol glycan anchor biosynthesis class C Gene

Homo sapiens

Also known as GPI2; MRT62; GPIBD16

Gene ID: 5279 | Gene type: protein coding

About PIGC

Cytogenetic location: 1q24.3 Genomic coordinates (GRCh38): 1:172,441,457-172,444,069 (from NCBI)

This gene has 7 transcripts (splice variants), 198 orthologues and is associated with 2 phenotypes. Ubiquitous expression in gall bladder (RPKM 12.5), skin (RPKM 12.3) and 25 other tissues.

Summary

This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI) lipid anchor biosynthesis. The GPI lipid anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. The encoded protein is one subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum. Two alternatively spliced transcripts that encode the same protein have been found for this gene. A pseudogene on chromosome 11 has also been characterized. [provided by RefSeq, Jul 2008]

PIGC Products(2)

mRNA	Protein	Name
NM_002642.4	NP_002633.1	phosphatidylinositol N-acetylglucosaminyltransferase subunit C
NM_153747.2	NP_714969.1	phosphatidylinositol N-acetylglucosaminyltransferase subunit C

PIGC Protein Structure

GPI2

0
100
200
297 a.a.

Protein Preferred Names

Protein Names

phosphatidylinositol N-acetylglucosaminyltransferase subunit C

PIG-C

Related Diseases

Diseases

Alias

Glycosylphosphatidylinositol Biosynthesis Defect 16

GPIBD16	Mrt62
Mental Retardation, Autosomal Recessive 62	Intellectual Developmental Disorder, Autosomal Recessive 62
Glycosylphosphatidylinositol Biosynthesis Defect, Type 16

Autosomal Recessive Non-Syndromic Intellectual Disability

Ar-Nsid

Ns-Arid

Anterior Segment Dysgenesis 4

Iridogoniodysgenesis Syndrome	Iridogoniodysgenesis, Type 2
Irid2	Iridogoniodysgenesis Type 2
ASGD4	Igds
Iris Hypoplasia With Early-Onset Glaucoma, Autosomal Dominant	Ihga
Irid 1	Irid 2
Iridogoniodysgenesis Type 1	Igds2
Iridogoniodysgenesis Syndrome 2	Iridogoniodysgenesis, Type 1

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-RS10489	PIGC Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	PIGC	VGNC	VGNC:44531
Mus musculus	PIGC	MGD	MGI:1914542
Macaca mulatta	PIGC	VGNC	VGNC:75986
Felis catus	PIGC	VGNC	VGNC:82497
Rattus norvegicus	PIGC	RGD	RGD:1311337