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Literature summary for 2.4.1.142 extracted from

  • Kranz, C.; Denecke, J.; Lehle, L.; Sohlbach, K.; Jeske, S.; Meinhardt, F.; Rossi, R.; Gudowius, S.; Marquardt, T.
    Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I (2004), Am. J. Hum. Genet., 74, 545-551.
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

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

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

Organism UniProt Comment Textmining
Homo sapiens Q9BT22
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Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
GDP-alpha-D-mannose + chitobiosyldiphosphodolichol
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Homo sapiens GDP + beta-(1->4)-D-mannosylchitobiosyldiphosphodolichol
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?

Synonyms

Synonyms Comment Organism
mannosyltransferase I
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Homo sapiens
MT-I
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Homo sapiens