The human gene SLC35A1 encodes the CMP-sialic acid transport...

created [InstanceEdit:735694] Jassal, Bijay, 2010-05-13
dbId 735697
displayName The human gene SLC35A1 encodes the CMP-sialic acid transport...
modified [InstanceEdit:5667044] D'Eustachio, Peter, 2015-01-22
schemaClass Summation
text The human gene SLC35A1 encodes the CMP-sialic acid transporter which mediates the antiport of CMP-sialic acid (CMP-Neu5Ac) into the Golgi lumen in exchange for CMP (Ishida et al. 1996). Defects in SLC35A1 are the cause of congenital disorder of glycosylation type 2F (CDG2F; MIM:603585). CDGs are a family of severe inherited diseases caused by a defect in protein N-glycosylation (Martinez-Duncker et al. 2005).
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