Gene: EXT1
Alternate names for this Gene: EXT|LGCR|LGS|TRPS2|TTV
Gene Summary: 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.
Gene is located in Chromosome: 8
Location in Chromosome : 8q24.11
Description of this Gene: exostosin glycosyltransferase 1
Type of Gene: protein-coding
Gene: SNORD168
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