SLC35A1 Antibody

1. We performed exome sequencing on an individual with a profound neurological presentation and identified rare compound heterozygous mutations, p.Thr156Arg and p.Glu196Lys, in the CMP-sialic acid transporter, SLC35A1. Patient primary fibroblasts and serum showed a considerable decrease in the amount of N- and O-glycans terminating in sialic acid PMID: 28856833
2. the SLC35A1 generates additional isoforms through alternative splicing. PMID: 27387429
3. SLC35A1-deficient cells lack of alpha-dystroglycan O-mannosylation, ligand binding and incorporation of sialic acids. PMID: 25552652
4. We confirm an autosomal recessive, generalized sialylation defect due to mutations in SLC35A1 PMID: 23873973
5. substrate binding specificity PMID: 12682060
6. this defect is a new type of congenital disorder of glycosylation (CDG) of type IIf affecting the transport of CMP-sialic acid into the Golgi apparatus. PMID: 15576474
7. this study, we introduced two critical genes encoding human CMP-N-acetylneuraminic acid synthetase and CMP-sialic acid transporter into tobacco suspension-cultured cell to pave a route for sialic biosynthetic pathway. PMID: 16343442
8. CMP-sialic acid transporter is localized in the medial-trans Golgi PMID: 16923816

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HGNC: 11021

OMIM: 603585

KEGG: hsa:10559

STRING: 9606.ENSP00000358565

UniGene: Hs.423163