Literature summary for 2.4.1.142 extracted from

Schwarz, M.; Thiel, C.; Lubbehusen, J.; Dorland, B.; de Koning, T.; von Figura, K.; Lehle, L.; Korner, C.
Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik (2004), Am. J. Hum. Genet., 74, 472-481.

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Cloned(Commentary)

Cloned (Comment)	Organism
expression of wild-type and mutant hALG1 in Saccharomyces cerevisiae alg1-1 strain	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
additional information	the molecular nature of severe multisystemic disorder with a recurrent nonimmune hydrops fetalis is identified as deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase caused by the C773T transition	Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
additional information	Homo sapiens	the molecular nature of severe multisystemic disorder with a recurrent nonimmune hydrops fetalis is identified as deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase caused by a C773T transition	?	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
additional information	the molecular nature of severe multisystemic disorder with a recurrent nonimmune hydrops fetalis is identified as deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase caused by a C773T transition	Homo sapiens	?	-	?

Synonyms

Synonyms	Comment	Organism
GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase	-	Homo sapiens

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Release 2023.1 (January 2023)