Literature summary for 2.4.1.142 extracted from

Dupre, T.; Vuillaumier-Barrot, S.; Chantret, I.; Yaye, H.S.; Le Bizec, C.; Afenjar, A.; Altuzarra, C.; Barnerias, C.; Burglen, L.; de Lonlay, P.; Feillet, F.; Napuri, S.; Seta, N.; Moore, S.E.
Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations (2010), J. Med. Genet., 47, 729-735.

Search for more literature for 2.4.1.142

Protein Variants

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

Localization	Comment	Organism	GeneOntology No.	Textmining
microsome	-	Homo sapiens	-	-

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q9BT22	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
skin fibroblast	-	Homo sapiens	-

Substrates and Products (Substrate)

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

Synonyms	Comment	Organism
ALG1	-	Homo sapiens
guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase-1	-	Homo sapiens
MT-1	-	Homo sapiens

General Information

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

Use of this online version of BRENDA is free under the CC BY 4.0 license. See terms of use for full details.

Release 2023.1 (January 2023)