title: Cloning, characterization, and chromosome mapping of the human GlcAT-S gene.
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.
authors.affiliation: Unidad de Genética Médica y Diagnóstico Prenatal, Hospitales Universitarios Virgen del Rocío, Avenida Manuel Siurot s/n, 41013 Sevilla, Spain.
authors.forename: Irene
authors.initials: I
authors.lastname: Marcos
authors.forename: José Jorge
authors.initials: JJ
authors.lastname: Galán
authors.forename: Salud
authors.initials: S
authors.lastname: Borrego
authors.forename: Guillermo
authors.initials: G
authors.lastname: Antiñolo
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D015152:Blotting, Northern; D002874:Chromosome Mapping; D002896:Chromosomes, Human, Pair 6; D003001:Cloning, Molecular; D018076:DNA, Complementary / Q000032:analysis / Q000737:chemistry; D000939:Epitopes / Q000096:biosynthesis*; D005819:Genetic Markers; D014453:Glucuronosyltransferase / Q000235:genetics*; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data
chemical_list: D018076:DNA, Complementary; D000939:Epitopes; D005819:Genetic Markers; C475472:B3GAT2 protein, human; D014453:Glucuronosyltransferase