Solute Carrier Family 35, Member A3 (SLC35A3)

The deduced 325-amino acid protein is 54% identical to SLC35A2. Northern blot analysis revealed ubiquitous expression of 2.4- and 6.2-kb transcripts. Immunoblot analysis showed that SLC35A3 is expressed as an approximately 30-kD protein. Immunofluorescence microscopy demonstrated association with the Golgi apparatus. Substrate analysis established that SLC35A3 is a highly active transporter of UDP-N-acetylglucosamine.

CVM is caused by mutation in the Golgi-resident nucleotide-sugar transporter encoded by SLC35A3. The disease showed complete cosegregation with the mutation in a homozygous state, and proteome patterns indicated abnormal protein glycosylation in tissues of affected animals.