Phosphatidylinositol Glycan Anchor Biosynthesis Class T Protein

Alternative Names

PIGT
Neuronal Development-Associated Protein
NDAP

Length

10,101 bases

No. of Exons

No. of isoforms

Protein Name

GPI transamidase component PIG-T

Molecular Mass

65700 Da

Amino Acid Count

578

Genomic Location

chr20:45,416,141-45,426,241

Gene Map Locus

20q13.12

Description

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 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. [From RefSeq]

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_015937.6:c.1079G>T	Somalia	NC_000020.11:g.45421428G>T	Pathogenic	Pathogenic	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	NG_047154.1:g.10362G>T; NM_015937.6:c.1079G>T; NP_057021.2:p.Gly360Val	1277383877	451026
NM_015937.6:c.1519C>T	Libya	NC_000020.11:g.45425608C>T	Uncertain Significance	Likely Pathogenic	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	NG_047154.1:g.14542C>T; NM_015937.6:c.1519C>T; NP_057021.2:p.Arg507Trp	146484791	1003026

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External Links

https://medlineplus.gov/genetics/gene/pigt/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGT

Contributors

Sayeeda Hana: 07.01.2025

Edit History

Sayeeda Hana: 07.01.2025

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