Abstract.
We report on the structure, map location, and tissue expression of the human GlcAT-S gene. 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-S was 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.
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Received: May 23, 2002 / Accepted: September 6, 2002
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Marcos, I., Galán, J., Borrego, S. et al. Cloning, characterization, and chromosome mapping of the human GlcAT-S gene. J Hum Genet 47, 677–680 (2002). https://doi.org/10.1007/s100380200103
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DOI: https://doi.org/10.1007/s100380200103