EXT1

GENE INFORMATION

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Gene name

EXT1 (HGNC Symbol)

Synonyms

LGCR, LGS, ttv

Description

Exostosin glycosyltransferase 1 (HGNC Symbol)

Entrez gene summary

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. [provided by RefSeq, Jul 2008]

Chromosome

8

Cytoband

q24.11

Chromosome location (bp)

117794490 - 118111853

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000182197 (version 78.38)

Entrez gene

2131

UniProt

Q16394 (UniProt - Evidence at protein level)

neXtProt

NX_Q16394

Antibodypedia

EXT1 antibodies
 

PROTEIN VIEW

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EXT1-001
 
EXT1-003
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

EXT1-001 ENSP00000367446
ENST00000378204
Q16394
Show all »
Show » Show » 746 86.3 No 1
EXT1-003 ENSP00000400372
ENST00000436216
S5Y321
Show all »
Show » 207 23.5 No 0