ST3GAL3 Antibody – Rabbit Polyclonal

The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi apparatus but can be proteolytically processed to a soluble form. This protein is a member of glycosyltransferase family 29. Mutations in this gene have been associated with autosomal recessive nonsymdromic mental retardation-12 (MRT12). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]

ST3GAL3: Catalyzes the formation of the NeuAc-alpha-2,3-Gal-beta- 1,4-GlcNAc-, NeuAc-alpha-2,3-Gal-beta-1,3-GlcNAc- or NeuAc-alpha- 2,3-Gal-beta-1,3-GalNAc- sequences found in terminal carbohydrate groups of glycoproteins and glycolipids. The highest activity is toward Gal-beta-1,3-GlcNAc and the lowest toward Gal-beta-1,3- GalNAc. Defects in ST3GAL3 are the cause of mental retardation autosomal recessive type 12 (MRT12). Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Belongs to the glycosyltransferase 29 family. 26 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; EC 2.4.99.6; Transferase; Glycan Metabolism - keratan sulfate biosynthesis; Glycan Metabolism - glycosphingolipid biosynthesis - lacto and neolacto series

Chromosomal Location of Human Ortholog: 1pter-p32.3

Disease: Mental Retardation, Autosomal Recessive 12