RNR1 RNA, ribosomal 45S cluster 1
Gene ID: 6052, updated on 28-Oct-2024Gene type: other
Summary
45S ribosomal DNA (rDNA) arrays, or clusters, are present on human chromosomes 13, 14, 15, 21 and 22, designated RNR1 through RNR5, respectively. Each cluster consists of multiple 45S rDNA repeat units that vary in number among individuals and chromosomes, with total diploid copy number estimates ranging from 60 to >800 repeat units in a human genome. The 45S rDNA repeat unit encodes a 45S rRNA precursor, transcribed by RNA polymerase I, which is processed to form the 18S, 5.8S and 28S rRNAs. Gene and RefSeq, in collaboration with HGNC, currently describe one 45S rDNA cluster, and one set of 45S precursor and product rRNAs, for each of the five human chromosomes to which these loci are localized. This gene represents the 45S ribosomal DNA cluster on chromosome 13. [provided by RefSeq, Feb 2017]
Associated conditions
| Description | Tests |
|---|---|
| Kanamycin response MedGen: CN184547GeneReviews: Nonsyndromic Hearing Loss and Deafness, Mitochondrial | See labs |
| Streptomycin response MedGen: C1154708GeneReviews: Nonsyndromic Hearing Loss and Deafness, Mitochondrial | See labs |
| Tobramycin response MedGen: CN184545GeneReviews: Nonsyndromic Hearing Loss and Deafness, Mitochondrial | See labs |
Genomic context
- Location:
- 13p12
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| SNP | Variation Viewer for RNR1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
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