ST3GAL3 explained

ST3 beta-galactoside alpha-2,3-sialyltransferase 3, also known as ST3GAL3, is a protein which in humans is encoded by the ST3GAL3 gene.[1] [2]

Function

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. Multiple transcript variants encoding several different isoforms have been found for this gene.[2]

Mutations in the ST3GAL3 gene was recently shown to be the cause of autosomal recessive mental retardation 12. Since the mutations disrupt a glycosylation pathway, this disorder may be considered a congenital disorder of glycosylation.

See also

Further reading

Notes and References

  1. Kitagawa H, Paulson JC . Cloning and expression of human Gal beta 1,3(4)GlcNAc alpha 2,3-sialyltransferase . Biochemical and Biophysical Research Communications . 194 . 1 . 375–82 . Jul 1993 . 8333853 . 10.1006/bbrc.1993.1830 .
  2. Web site: Entrez Gene: ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3.