EXT1

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Exostosin glycosyltransferase 1
Identifiers
Symbols EXT1 ; EXT; LGCR; LGS; TRPS2; TTV
External IDs OMIM608177 MGI894663 HomoloGene30957 GeneCards: EXT1 Gene
EC number 2.4.1.224, 2.4.1.225
RNA expression pattern
PBB GE EXT1 201995 at tn.png
PBB GE EXT1 214985 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 2131 14042
Ensembl ENSG00000182197 ENSMUSG00000061731
UniProt Q16394 P97464
RefSeq (mRNA) NM_000127 NM_010162
RefSeq (protein) NP_000118 NP_034292
Location (UCSC) Chr 8:
118.81 – 119.12 Mb
Chr 15:
53.06 – 53.35 Mb
PubMed search [1] [2]

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

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.[1]

Interactions[edit]

EXT1 has been shown to interact with TRAP1.[2]

See also[edit]

References[edit]

  1. ^ a b "Entrez Gene: EXT1 exostoses (multiple) 1". 
  2. ^ 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]