rs1592225374
This variant is located in the DPAGT1 gene.
▶ClinVar annotation
DPAGT1-congenital disorder of glycosylation; DPAGT1-congenital disorder of glycosylation;Congenital myasthenic syndrome 13; not provided
View on ClinVar →About DPAGT1
The protein encoded by this gene is an enzyme that catalyzes the first step in the dolichol-linked oligosaccharide pathway for glycoprotein biosynthesis. This enzyme belongs to the glycosyltransferase family 4. This protein is an integral membrane protein of the endoplasmic reticulum. The congenital disorder of glycosylation type Ij is caused by mutation in the gene encoding this enzyme. [provided by RefSeq, Jul 2008]
View all DPAGT1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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