Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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Gene Review:

SLC35A3 - solute carrier family 35 (UDP-N...

Bos taurus

Thomsen, B. et al., Kanae, Y. et al.

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High impact information on LOC520918

A missense mutation in the bovine SLC35A3 gene, encoding a UDP-N-acetylglucosamine transporter, causes complex vertebral malformation [1].
In addition, a yeast mutant that is deficient in the transport of UDP-N-acetylglucosamine into its Golgi lumen can be rescued by the wild-type SLC35A3 gene, but not by the mutated gene [1].
These results provide the first demonstration of a genetic disorder associated with a defective SLC35A3 gene, and reveal a new mechanism for malformation of the vertebral column caused by abnormal nucleotide-sugar transport into the Golgi apparatus [1].
The mode of inheritance of CVM is autosomal recessive, and CVM is caused by a point mutation from G to T at nucleotide position 559 of the bovine solute carrier family 35 member 3 (SLC35A3) gene [2].

References

A missense mutation in the bovine SLC35A3 gene, encoding a UDP-N-acetylglucosamine transporter, causes complex vertebral malformation. Thomsen, B., Horn, P., Panitz, F., Bendixen, E., Petersen, A.H., Holm, L.E., Nielsen, V.H., Agerholm, J.S., Arnbjerg, J., Bendixen, C. Genome Res. (2006) [Pubmed]
A method for detecting complex vertebral malformation in Holstein calves using polymerase chain reaction-primer introduced restriction analysis. Kanae, Y., Endoh, D., Nagahata, H., Hayashi, M. J. Vet. Diagn. Invest. (2005) [Pubmed]

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nstp-4	Caenorhabditis elegans
SLC35A3	Canis lupus familiaris
slc35a3a	Danio rerio
SLC35A3	Gallus gallus
SLC35A3	Homo sapiens
SLC35A3	Macaca mulatta
Slc35a3	Mus musculus
SLC35A3	Pan troglodytes
Slc35a3	Rattus norvegicus
slc35a3	Xenopus (Silurana) tropicalis
slc35a3.2	Xenopus (Silurana) tropicalis

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