Solute carrier family 35 member A3 (SLC35A3) encodes a uridine diphosphate N-acetylglucosamine transporter, which is localized in the Golgi apparatus.The gene is located on human chromosome 1p21.2.
Immunogen
SLC35A3 (NP_036375, 61 a.a. ~ 113 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
Solute carrier family 35 member A3 (SLC35A3) plays an important role in the glycosylation of macromolecules. The protein plays an important role in skeletal system development. Mutations of this gene is associated with complex vertebral malformation (CVM) in cattle and syndromic autism and epilepsy and arthrogryposis in humans.
Physical form
Solution in phosphate buffered saline, pH 7.4
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Genetic polymorphism of SLC35A3 gene in Karan Fries bull calves
Yathish,, et al.
Indian Journal of Animal Sciences (India) (2011)
Combinations of newly confirmed Glioma-Associated loci link regions on chromosomes 1 and 9 to increased disease risk
Yang, Tu, et al.
BMC Medical Genomics, 4(1), 63-63 (2011)
A human case of SLC35A3-related skeletal dysplasia
Edmondso, et al.
American Journal of Medical Genetics. Part A, 173(10), 2758-2762 (2017)
Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects
Marini,, et al.
American Journal of Medical Genetics. Part A, 173(4), 1119-1123 (2017)
UDP-N-acetylglucosamine transporter (SLC35A3) regulates biosynthesis of highly branched N-glycans and keratan sulfate
Maszczak, et al.
The Journal of biological chemistry, jbc-M113 (2013)
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