A missense mutation in the bovine SLC35A3 gene, encoding a UDP-N-acetylglucosamine transporter, causes complex vertebral malformation
نویسندگان
چکیده
منابع مشابه
UDP-N-acetylglucosamine transporter (SLC35A3) regulates biosynthesis of highly branched N-glycans and keratan sulfate.
SLC35A3 is considered the main UDP-N-acetylglucosamine transporter (NGT) in mammals. Detailed analysis of NGT is restricted because mammalian mutant cells defective in this activity have not been isolated. Therefore, using the siRNA approach, we developed and characterized several NGT-deficient mammalian cell lines. CHO, CHO-Lec8, and HeLa cells deficient in NGT activity displayed a decrease in...
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Complex vertebral malformation(CVM) isanautosomal recessivehereditarydisorder caused bya point mutation in position 559 inexon 4 of the SLC35A3 gene on chromosome 3 inHolstein dairy cattle.This mutationchanges the function of uridine 5-diphosphate-N-acetylglucosamine transporter protein bythe substitution of valine for phenylalanine at position 180 of this protein. The disease causes premature ...
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ژورنال
عنوان ژورنال: Genome Research
سال: 2005
ISSN: 1088-9051
DOI: 10.1101/gr.3690506