The UDP-galactose translocator gene is mapped to band Xp11.23-p11.22 containing the Wiskott-Aldrich syndrome locus.

Abstract

We have cloned a segment of the human gene encoding UDP-galactose translocator by genetic complementation of its defective mutant in mouse FM3A cells. Chromosome mapping using fluorescent in situ hybridization revealed that the cloned gene hybridized to the Xp11.23-11.23 region of the X chromosome. This region is shared by the locus of Wiskott-Aldrich syndrome, an X-linked recessive immunodeficiency disorder, characterized by defective sugar chains on cell surface components. Genetic and phenotypic similarities suggest a possible link between UDP-galactose translocator and the Wiskott-Aldrich syndrome (WAS).

• Authors: T Hara, M Yamauchi, E Takahashi, M Hoshino, K Aoki, D Ayusawa, M Kawakita
• Journal: Somatic cell and molecular genetics (Somat Cell Mol Genet) Vol. 19 Issue 6 Pg. 571-5 (Nov 1993) ISSN: 0740-7750 [Print] United States
• PMID: 8128316 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Carrier Proteins
• Glycoproteins
• Uridine Diphosphate Galactose
• Galactosyltransferases

Topics

• Animals
• Blotting, Southern
• Carrier Proteins (genetics)
• Cells, Cultured
• Chromosome Banding
• Chromosome Mapping
• Female
• Galactosyltransferases (genetics)
• Glycoproteins (biosynthesis)
• Glycosylation
• Humans
• In Situ Hybridization, Fluorescence
• Male
• Mice
• Protein Biosynthesis
• Transfection
• Uridine Diphosphate Galactose (metabolism)
• Wiskott-Aldrich Syndrome (genetics)
• X Chromosome