Exostosin Glycosyltransferase 1

Alternative Names

EXT1
Exostosin 1
EXT

Length

317,337 bases

No. of Exons

No. of isoforms

Protein Name

Exostosin-1

Molecular Mass

86255 Da

Amino Acid Count

746

Genomic Location

chr8:117,794,489-118,111,825

Gene Map Locus

8q24.11

Description

This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. [From RefSeq]

Epidemiology in the Arab World

View Map

Saudi Arabia

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_000127.3:c.2132G>A	Saudi Arabia	NC_000008.11:g.117799821C>T	Likely Pathogenic, Pathogenic	Pathogenic	Exostoses, Multiple, Type I	NG_007455.2:g.316999G>A; NM_000127.3:c.2132G>A; NP_000118.2:p.Trp711Ter	786205593	191230

Download Table

External Links

https://medlineplus.gov/genetics/gene/ext1/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=ext1

Contributors

Asha Deepthi: 18.11.2021

Edit History

Asha Deepthi: 18.11.2021

Back to search Result