Cloning, characterization, and chromosome mapping of the human GlcAT-S gene

J Hum Genet. 2002;47(12):677-80. doi: 10.1007/s100380200103.

Abstract

We report on the structure, map location, and tissue expression of the human GlcAT-Sgene. The gene covers approximately 85 Kb on chromosome 6 (6q13) between the D6S455 and D6S1673 markers. GlcAT-S is composed of four exons and encodes a 324-amino-acid protein, which shows 89% homology with the rat glcat-s protein and is involved in the biosynthesis of the HNK-1 carbohydrate epitope on glycoproteins. Although GlcAT-Swas considered an interesting candidate gene for the RP25 locus, the absence of any pathogenic mutations in probands of RP25-linked families ruled out that candidacy.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Blotting, Northern
  • Chromosome Mapping
  • Chromosomes, Human, Pair 6*
  • Cloning, Molecular
  • DNA, Complementary / analysis
  • DNA, Complementary / chemistry
  • Epitopes / biosynthesis*
  • Genetic Markers
  • Glucuronosyltransferase / genetics*
  • Humans
  • Introns
  • Molecular Sequence Data

Substances

  • DNA, Complementary
  • Epitopes
  • Genetic Markers
  • B3GAT2 protein, human
  • Glucuronosyltransferase