EXT1

Also known as EXT, LGCR, LGS, TRPS2, TTV, exostosin glycosyltransferase 1

Exostosin-1 is a protein that in humans is encoded by the EXT1 gene.

Gene data

EXT1

Name: exostosin glycosyltransferase 1
Type: protein-coding
Aliases: EXT, LGCR, LGS, TRPS2, TTV

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].

via MyGene.info

Gene · Ensembl

exostosin glycosyltransferase 1

Symbol: EXT1
Biotype: Protein coding
Organism: Homo sapiens
Location: 8:117,794,490-118,111,899
Strand: Reverse (−)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Show 5 more facts

HomoloGene ID: 30957
exact match: identifiers.org/ncbigene/2131
genomic end: 118111826
genomic start: 118806729
cytogenetic location: 8q24.11

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Exostosin-1 is a protein that in humans is encoded by the EXT1 gene.

This gene encodes one of the two endoplasmic reticulum-resident type II transmembrane glycosyltransferase – the other being EXT2 – which are involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses.