General Information:

Id: 5,417 (click here to show other Interactions for entry)
Diseases: Diabetes mellitus, type II - [OMIM]
Insulin resistance
Homo sapiens
Finnish individuals with homo- zygous or heterozygous LRP5 mutations
article
Reference: Saarinen A et al.(2010) Low density lipoprotein receptor-related protein 5 (LRP5) mutations and osteoporosis, impaired glucose metabolism and hypercholesterolaemia Clin. Endocrinol. (Oxf) 72: 481-488 [PMID: 19673927]

Interaction Information:

Comment The effect of the three patient LRP5 mutations R570W, R1036Q and R925C on Wnt signalling was measured with luciferase-based reporter assays. Luciferase activities in cells expressing the R570W variant were significantly reduced as compared with the wild type LRP5. The same was observed with the R1036Q variant, although to lesser extent. Co-transfection of R570W and R1036Q variants, mimicking a compound heterozygous state, resulted in luciferase activity intermediate to R570W or wild type constructs alone. When the R570W or R1036Q mutant construct was co-transfected with a wild type construct, simulating a heterozygous state, the reduced luciferase activities were restored to luciferase levels equal to wild type LRP5. Assays with the R925C variant did not suggest altered signal transduction.
Formal Description
Interaction-ID: 52894

decreases_activity of

the effective allele is T (TGG=Trp)