Protein Variants | Comment | Organism |
---|---|---|
C396Y | the mutation is associated with congenital disorders of glycosylation | Homo sapiens |
G145D | the mutation is associated with congenital disorders of glycosylation | Homo sapiens |
M377V | the mutation is associated with congenital disorders of glycosylation | Homo sapiens |
R276W | the mutation is associated with congenital disorders of glycosylation | Homo sapiens |
R438W | the mutation is associated with congenital disorders of glycosylation | Homo sapiens |
S150R | the mutation is associated with congenital disorders of glycosylation | Homo sapiens |
S258L | the mutation is associated with congenital disorders of glycosylation | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
microsome | - |
Homo sapiens | - |
- |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q9BT22 | - |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
skin fibroblast | - |
Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
GDP-alpha-D-mannose + diphosphodolichyl-N-acetyl-D-glucosaminyl-N-acetyl-D-glucosamine | - |
Homo sapiens | GDP + beta-(1->4)-D-mannosylchitobiosyl diphosphodolichol | - |
? |
Synonyms | Comment | Organism |
---|---|---|
ALG1 | - |
Homo sapiens |
guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase-1 | - |
Homo sapiens |
MT-1 | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | a deficiency in guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase-1 causes type I congenital disorders of glycosylation | Homo sapiens |