EXT1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human EXT1 wild-type allele is located within 8q24.11-q24.13 and is approximately 312 kb in length. This allele, which encodes exostosin-1 protein, is involved in the chain elongation step of heparin/heparin sulfate biosynthesis. Certain allelic variants of the EXT1 gene cause multiple exostoses type I.

**Synonyms:** - EXT - Exostoses (Multiple) 1 Gene - Exostosin Glycosyltransferase 1 wt Allele - LGCR - LGS - Langer-Giedion Syndrome Chromosome Region Gene - TRPS2 - TTV