Cloned (Comment) | Organism |
---|---|
glycosylation and growth of Alg1-deficient PRY56 yeast cells, showing a temperature-sensitive phenotype, can be restored by the human wild-type allele, only slight restoration is observed after transformation with the patients allelles. One patient has homozygous point mutation S258L, the other patient is compound heterozygous for the mutations S258L and E342O. Mutation in the semiconserved regions of the HMT-1 gene causes drastically reduced enzyme activity, leading to a severe disease with death in early infancy | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
E342L | mutation in the semiconserved regions of the HMT-1 gene causes drastically reduced enzyme activity, leading to a severe disease with death in early infancy | Homo sapiens |
S258L | mutation in the semiconserved regions of the HMT-1 gene causes drastically reduced enzyme activity, leading to a severe disease with death in early infancy | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q9BT22 | - |
- |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
GDP-alpha-D-mannose + chitobiosyldiphosphodolichol | - |
Homo sapiens | GDP + beta-(1->4)-D-mannosylchitobiosyldiphosphodolichol | - |
? |
Synonyms | Comment | Organism |
---|---|---|
mannosyltransferase I | - |
Homo sapiens |
MT-I | - |
Homo sapiens |