Property Summary

NCBI Gene PubMed Count 9
Grant Count 6
R01 Count 5
Funding $867,632.55
PubMed Score 4.29
PubTator Score 5.33

Knowledge Summary

Patent

No data available

Synonym

Accession A8MXD5
Symbols DFNB25
PPP1R88

Gene

PANTHER Protein Class (1)

Gene RIF (2)

PMID Text
25802247 Novel mutations in GRXCR1 at DFNB25 leading to progressive hearing loss are identified in a Japanese family.
20137778 Quantitative analysis of GRXCR1 transcripts in fetal and adult human tissues revealed a preferential expression of the gene in fetal cochlea, which may explain the nonsyndromic nature of the hearing impairment.

AA Sequence

MLKREMKPESDRPRKVRFRIASSHSGRVLKEVYEDGQPSGSLDSECASICGIDGLGDSDGQQNGHIESEG      1 - 70
DENENDQDSLLVLARAASEKGFGTRRVNILSKNGTVRGVKYKVSAGQALFNNLTKVLQQPSTDLEFDRVV     71 - 140
IYTTCLRVVRTTFERCELVRKIFQNHRVKFEEKNIALNGEYGKELDERCRRVSEAPSLPVVFIDGHYLGG    141 - 210
AEKILSMNESGELQDILTKIERVQHPHECPSCGGFGFLPCSVCHGSKMSMFRNCFTDSFKALKCTACNEN    211 - 280
GLQRCKNCAG                                                                281 - 290
//

Publication (9)

PMID Year Title
25802247 2015 Novel mutation in GRXCR1 at DFNB25 lead to progressive hearing loss and dizziness.
25338677 Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
20137778 2010 Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment.
20137774 2010 Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse.
19389623 2009 Docking motif-guided mapping of the interactome of protein phosphatase-1.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
11329013 2001 Creation of genome-wide protein expression libraries using random activation of gene expression.
9847074 1998 Toward a complete human genome sequence.