Gene Symbol | ALG9 |
Entrez Gene ID | 79796 |
Full Name | ALG9, alpha-1,2-mannosyltransferase |
Synonyms | CDG1L,DIBD1,GIKANIS,LOH11CR1J |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes an alpha-1,2-mannosyltransferase enzyme that functions in lipid-linked oligosaccharide assembly. Mutations in this gene result in congenital disorder of glycosylation type Il. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]. |
Disorder MIM: | |
Disorder Html: | Congenital disorder of glycosylation, type Il, 608776 (3); Gillessen-Kaesbach-Nishimura syndrome, 263210 (3) |