EXT1

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EXT1
Identifiers
Aliases EXT1, EXT, LGCR, LGS, TRPS2, TTV, exostosin glycosyltransferase 1
External IDs MGI: 894663 HomoloGene: 30957 GeneCards: EXT1
RNA expression pattern
PBB GE EXT1 201995 at fs.png

PBB GE EXT1 214985 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000127

NM_010162

RefSeq (protein)

NP_000118

NP_034292.2
NP_034292

Location (UCSC) Chr 8: 117.79 – 118.11 Mb Chr 15: 53.06 – 53.35 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Exostosin-1 is a protein that in humans is encoded by the EXT1 gene.[3]

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.[3]

Interactions[edit]

EXT1 has been shown to interact with TRAP1.[4]

See also[edit]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ a b "Entrez Gene: EXT1 exostoses (multiple) 1". 
  4. ^ Simmons, A D; Musy M M; Lopes C S; Hwang L Y; Yang Y P; Lovett M (Nov 1999). "A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses". Hum. Mol. Genet. ENGLAND. 8 (12): 2155–64. doi:10.1093/hmg/8.12.2155. ISSN 0964-6906. PMID 10545594. 

Further reading[edit]

External links[edit]