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
388400952024Increased risk of hearing loss associated with MT-RNR1 gene mutations: a real-world investigation among Han Taiwanese Population.0
388400952024Increased risk of hearing loss associated with MT-RNR1 gene mutations: a real-world investigation among Han Taiwanese Population.0
365796242023Detecting mitochondrial mutations associated with aminoglycoside ototoxicity by noninvasive prenatal testing.1
376833102023Identification of new variants in MTRNR1 and MTRNR2 genes using whole mitochondrial genome sequencing in a Taiwanese family with MERRF (myoclonic epilepsy with ragged-red fibers) syndrome.0
365796242023Detecting mitochondrial mutations associated with aminoglycoside ototoxicity by noninvasive prenatal testing.1
376833102023Identification of new variants in MTRNR1 and MTRNR2 genes using whole mitochondrial genome sequencing in a Taiwanese family with MERRF (myoclonic epilepsy with ragged-red fibers) syndrome.0
358420232022MOTS-c promotes muscle differentiation in vitro.4
358420232022MOTS-c promotes muscle differentiation in vitro.4
334687092021A pro-diabetogenic mtDNA polymorphism in the mitochondrial-derived peptide, MOTS-c.25
334987212021Impact of an MT-RNR1 Gene Polymorphism on Hepatocellular Carcinoma Progression and Clinical Characteristics.6
335547792021MOTS-c reduces myostatin and muscle atrophy signaling.13
334687092021A pro-diabetogenic mtDNA polymorphism in the mitochondrial-derived peptide, MOTS-c.25
334987212021Impact of an MT-RNR1 Gene Polymorphism on Hepatocellular Carcinoma Progression and Clinical Characteristics.6
335547792021MOTS-c reduces myostatin and muscle atrophy signaling.13
326456182020The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China.9

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