rs104894559, CA4

N. diseases: 3
Disease: Retinitis Pigmentosa ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
0.710 CausalMutation CLINVAR Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration. 15563508 2005
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
0.710 CausalMutation CLINVAR Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa. 15090652 2004
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
0.710 GeneticVariation BEFREE In collaboration with scientists at the University of Cape Town (Rondebosch, South Africa), we recently showed that the R14W mutation in the signal sequence of CA IV, which they identified in patients with the retinitis pigmentosa (RP) 17 form of autosomal dominant RP, results in accumulation of unfolded protein in the endoplasmic reticulum (ER), leading to ER stress, the unfolded protein response, and apoptosis in a large fraction of transfected COS-7 cells expressing mutant, but not wild-type, CA IV. 15295099 2004