Gene Symbol | ALG8 |
Entrez Gene ID | 79053 |
Full Name | ALG8, alpha-1,3-glucosyltransferase |
Synonyms | CDG1H |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation of proteins. Mutations in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ih). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Congenital disorder of glycosylation, type Ih, 608104 (3) |