RNR1 (RNA, ribosomal 45S cluster 1)

2007-02-01  

Identity

HGNC
LOCATION
13p12
LOCUSID
ALIAS
-

Other Information

Locus ID:

NCBI: 4549
MIM: 561000
HGNC: 7470

Variants:

dbSNP: 4549
ClinVar: 4549
COSMIC: RNR1

Pathways

PathwaySourceExternal ID
RibosomeKEGGko03010
RibosomeKEGGhsa03010
Ribosome biogenesis in eukaryotesKEGGko03008
Ribosome biogenesis in eukaryotesKEGGhsa03008

References

Pubmed IDYearTitleCitations
192900592009Mitochondrial variants in schizophrenia, bipolar disorder, and major depressive disorder.62
197443342009Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.49
158413902005Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss.36
201006002010Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss.31
201006002010Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss.31
191966842009Prevalence of mitochondrial 1555A-->G mutation in European children.30
198188762010Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation.27
157224872005Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing loss.26
160602902005Mitochondrial genome polymorphisms associated with type-2 diabetes or obesity.24
123943462002Genetic susceptibility to aminoglycoside ototoxicity: how many are at risk?22

Citation

Dessen P

RNR1 (RNA, ribosomal 45S cluster 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45693/rnr1