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The protein encoded by CMPST is found in the membrane of the Golgi apparatus, where it transports nucleotide sugars into the Golgi.
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CMP-sialic acid transporter is localized in the medial-trans Golgi
analysis of the functional murine CMP-sialic acid transporter expressed in the E. coli inner membrane
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
the SLC35A1 generates additional isoforms through alternative splicing.
SLC35A1-deficient cells lack of alpha-dystroglycan O-mannosylation, ligand binding and incorporation of sialic acids.
We confirm an autosomal recessive, generalized sialylation defect due to mutations in SLC35A1
this defect is a new type of congenital disorder of glycosylation (CDG) of type IIf affecting the transport of CMP (zeige MATN1 Antikörper)-sialic acid into the Golgi apparatus.
this study, we introduced two critical genes encoding human CMP-N-acetylneuraminic acid synthetase (zeige CMAS Antikörper) and CMP-sialic acid transporter into tobacco suspension-cultured cell to pave a route for sialic biosynthetic pathway.
The protein encoded by this gene is found in the membrane of the Golgi apparatus, where it transports nucleotide sugars into the Golgi. One such nucleotide sugar is CMP-sialic acid, which is imported into the Golgi by the encoded protein and subsequently glycosylated. Defects in this gene are a cause of congenital disorder of glycosylation type 2F (CDG2F). Two transcript variants encoding different isoforms have been found for this gene.
, CMP-sialic acid transporter
, solute carrier family 35 member A1
, Solute carrier family 35 member A1
, mutated CMP-sialic acid transporter A1
, solute carrier family 35 (CMP-sialic acid transporter), member 1
, solute carrier family 35 (UDP-galactose transporter), member 1