EXT1

From Wikipedia, the free encyclopedia
Jump to: navigation, search
For the filesystem, see Extended file system.
EXT1
Identifiers
Aliases EXT1, EXT, LGCR, LGS, TRPS2, TTV, exostosin glycosyltransferase 1
External IDs MGI: 894663 HomoloGene: 30957 GeneCards: 2131
Genetically Related Diseases
Disease Name References
obesity
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
Ensembl
UniProt
RefSeq (mRNA)

NM_000127

NM_010162

RefSeq (protein)

NP_000118.2

NP_034292.2

Location (UCSC) Chr 8: 117.79 – 118.11 Mb Chr 15: 53.06 – 53.35 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Exostosin-1 is a protein that in humans is encoded by the EXT1 gene.[4]

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.[4]

Interactions[edit]

EXT1 has been shown to interact with TRAP1.[5]

See also[edit]

References[edit]

  1. ^ "chibi.ubc.ca/Gemma/phenotypes.html?phenotypeUrlId=DOID_9970&geneId=44600". 
  2. ^ "Human PubMed Reference:". 
  3. ^ "Mouse PubMed Reference:". 
  4. ^ a b "Entrez Gene: EXT1 exostoses (multiple) 1". 
  5. ^ 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]