| UniProt Protein Function: | ALG8: Adds the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc(1)Man(9)GlcNAc(2)-PP-Dol. Defects in ALG8 are the cause of congenital disorder of glycosylation type 1H (CDG1H). CDGs are a family of severe inherited diseases caused by a defect in protein N- glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Belongs to the ALG6/ALG8 glucosyltransferase family.Protein type: Transferase; Membrane protein, multi-pass; EC 2.4.1.265; Membrane protein, integral; Glycan Metabolism - N-glycan biosynthesisChromosomal Location of Human Ortholog: 11q14.1Cellular Component: endoplasmic reticulum membraneMolecular Function: alpha-1,3-mannosyltransferase activity; dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase activity; dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activityBiological Process: dolichol-linked oligosaccharide biosynthetic process; oligosaccharide-lipid intermediate assembly; protein amino acid N-linked glycosylationDisease: Congenital Disorder Of Glycosylation, Type Ih |
| UniProt Protein Details: | |
| NCBI 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] |
| UniProt Code: | Q9BVK2 |
| NCBI GenInfo Identifier: | 143811361 |
| NCBI Gene ID: | 79053 |
| NCBI Accession: | Q9BVK2.2 |
| UniProt Secondary Accession: | Q9BVK2,O60860, A6NDW6 |
| UniProt Related Accession: | Q9BVK2 |
| Molecular Weight: | 53,181 Da |
| NCBI Full Name: | Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase |
| NCBI Synonym Full Names: | ALG8, alpha-1,3-glucosyltransferase |
| NCBI Official Symbol: | ALG8Â Â |
| NCBI Official Synonym Symbols: | CDG1HÂ Â |
| NCBI Protein Information: | probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase |
| UniProt Protein Name: | Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase |
| UniProt Synonym Protein Names: | Asparagine-linked glycosylation protein 8 homolog; Dol-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichyl alpha-1,3-glucosyltransferase; Dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferase |
| Protein Family: | Glycosyltransferase |
| UniProt Gene Name: | ALG8Â Â |
| UniProt Entry Name: | ALG8_HUMAN |
