Defective ALG3 causes ALG3-CDG (CDG-1d)

Stable Identifier
R-HSA-4720475
Type
Pathway
Species
Homo sapiens
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Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase (ALG3) adds the sixth mannose (although the first to be derived from dolichyl-phosphate-mannose, DOLPman) to the lipid-linked oligosaccharide (LLO) intermediate GlcNAc(2) Man(5) (PPDol)1 (Korner et al. 1999). Defects in ALG3 are associated with congenital disorder of glycosylation 1d (ALG3-CDG, CDG1d; MIM:601110), a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterised by under-glycosylated serum glycoproteins. CDG type 1 diseases result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency (Sun et al. 2005).

Literature References
PubMed ID Title Journal Year
15840742 Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia

Sun, L, Eklund, EA, Chung, WK, Wang, C, Cohen, J, Freeze, HH

J Clin Endocrinol Metab 2005
10581255 Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase

K├Ârner, C, Knauer, R, Stephani, U, Marquardt, T, Lehle, L, von Figura, K

EMBO J. 1999
Participants
Participant Of
Disease
Name Identifier Synonyms
congenital disorder of glycosylation type I 0050570
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