Title : Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement.

Pub. Date : 2004 Jul 6

PMID : 15215498






2 Functional Relationships(s)
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1 We sequenced candidate genes from the region and identified a missense mutation in the chondroitin 6-O-sulfotransferase (C6ST-1) gene (CHST3) changing an arginine into a glutamine (R304Q) in the well conserved 3"-phosphoadenosine 5"-phosphosulfate binding site. Phosphoadenosine Phosphosulfate carbohydrate sulfotransferase 3 Homo sapiens
2 We sequenced candidate genes from the region and identified a missense mutation in the chondroitin 6-O-sulfotransferase (C6ST-1) gene (CHST3) changing an arginine into a glutamine (R304Q) in the well conserved 3"-phosphoadenosine 5"-phosphosulfate binding site. Phosphoadenosine Phosphosulfate carbohydrate sulfotransferase 3 Homo sapiens