ST3GAL5 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human ST3GAL5 wild-type allele is located in the vicinity of 2p11.2 and is approximately 68 kb in length. This allele, which encodes lactosylceramide alpha-2,3-sialyltransferase protein, plays a role in the conversion of glycosphingolipid precursors into gangliosides. Mutations in the gene are associated with salt and pepper developmental regression syndrome (GM3 synthase deficiency).

**Synonyms:** - Alpha 2,3-Sialyltransferase V Gene - SATI - SIAT9 - SIATGM3S - SPDRS - ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 5 wt Allele - ST3Gal V - ST3GalV - Sialyltransferase 9 (CMP-NeuAc:Lactosylceramide Alpha-2,3-Sialyltransferase; GM3 Synthase) Gene - UNQ2510/PRO5998