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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for EXT1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID2131
Official gene symbolEXT1
Full nameexostosin 1
Aliases,EXT,LGCR,LGS,TRPS2,TTV,
Gene summaryThis 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]
LocationChromosome: 8   Locus: 8q24.11-q24.13
Gene position119124058 - 118811602  Map Viewer
Gene orientationminus
Gene size312457 bp
Gene sequence
OMIM ID608177