Gene Symbol | DPAGT1 |
Entrez Gene ID | 1798 |
Full Name | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 |
Synonyms | ALG7,CDG-Ij,CDG1J,CMS13,CMSTA2,D11S366,DGPT,DPAGT,DPAGT2,G1PT,GPT,UAGT,UGAT |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Congenital disorder of glycosylation, type Ij, 608093 (3); Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750 (3) |