rs749484470
This variant is located in the ALG5 gene.
▶ClinVar annotation
About ALG5
This gene encodes a member of the glycosyltransferase 2 family. The encoded protein participates in glucosylation of the oligomannose core in N-linked glycosylation of proteins. The addition of glucose residues to the oligomannose core is necessary to ensure substrate recognition, and therefore, effectual transfer of the oligomannose core to the nascent glycoproteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]
View all ALG5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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