rs104894559
×
Entrez Id:
762
Gene Symbol:
CA4
CA4
Retinitis Pigmentosa 17
0.820
GeneticVariation
UNIPROT
Screening for the carbonic anhydrase IV gene mutations in Chinese retinitis pigmentosa patients.
20450258
2010
rs104894559
×
Entrez Id:
762
Gene Symbol:
CA4
CA4
Retinitis Pigmentosa 17
0.820
GeneticVariation
BEFREE
Cell-specific differences in the processing of the R14W CAIV mutant associated with retinitis pigmentosa 17 .
20626030
2010
rs104894559
×
Entrez Id:
762
Gene Symbol:
CA4
CA4
Retinitis Pigmentosa 17
0.820
GeneticVariation
BEFREE
These properties are similar to those of R14W CA IV, the signal sequence variant found in the original patients with RP17 .
19211803
2009
rs104894559
×
Entrez Id:
762
Gene Symbol:
CA4
CA4
Retinitis Pigmentosa 17
0.820
GeneticVariation
UNIPROT
Identification and characterization of a novel mutation in the carbonic anhydrase IV gene that causes retinitis pigmentosa.
17652713
2007
rs104894559
×
Entrez Id:
762
Gene Symbol:
CA4
CA4
Retinitis Pigmentosa 17
0.820
GeneticVariation
UNIPROT
Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration.
15563508
2005
rs104894559
×
Entrez Id:
762
Gene Symbol:
CA4
CA4
Retinitis Pigmentosa 17
T
0.820
CausalMutation
CLINVAR
rs104894559
×
Entrez Id:
762
Gene Symbol:
CA4
CA4
Retinitis Pigmentosa
T
0.710
CausalMutation
CLINVAR
Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration.
15563508
2005
rs104894559
×
Entrez Id:
762
Gene Symbol:
CA4
CA4
Retinitis Pigmentosa
T
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
rs104894559
×
Entrez Id:
762
Gene Symbol:
CA4
CA4
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
rs1245199379
×
Entrez Id:
762
Gene Symbol:
CA4
CA4
Retinitis Pigmentosa 17
0.700
GeneticVariation
UNIPROT
Screening for the carbonic anhydrase IV gene mutations in Chinese retinitis pigmentosa patients.
20450258
2010
rs1245199379
×
Entrez Id:
762
Gene Symbol:
CA4
CA4
Retinitis Pigmentosa 17
0.700
GeneticVariation
UNIPROT
Identification and characterization of a novel mutation in the carbonic anhydrase IV gene that causes retinitis pigmentosa.
17652713
2007
rs1245199379
×
Entrez Id:
762
Gene Symbol:
CA4
CA4
Retinitis Pigmentosa 17
0.700
GeneticVariation
UNIPROT
Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration.
15563508
2005
rs121434551
×
Entrez Id:
762
Gene Symbol:
CA4
CA4
Retinitis Pigmentosa 17
A
0.700
CausalMutation
CLINVAR
rs121434552
×
Entrez Id:
762
Gene Symbol:
CA4
CA4
Retinitis Pigmentosa 17
A
0.700
CausalMutation
CLINVAR
rs1245199379
×
Entrez Id:
762
Gene Symbol:
CA4
CA4
Retinitis Pigmentosa
0.010
GeneticVariation
BEFREE
Ten sequence alterations were identified, including a novel variant within exon 1 of CA4 (A12T ) in a patient with RP .
20450258
2010
rs104894559
×
Entrez Id:
762
Gene Symbol:
CA4
CA4
Behcet Syndrome
0.010
GeneticVariation
BEFREE
The CAIV p.R14W sequence variant found in one of the patients with a BD phenotype is a benign polymorphism in a population of northern Sweden.
18344446
2008