RPL10 ribosomal protein L10
Gene ID: 6134, updated on 5-Jan-2025Gene type: protein coding
Also known as: QM; L10; NOV; uL16; AUTSX5; DXS648; MRXS35; DXS648E
- See all available tests in GTR for this gene
- Go to complete Gene record for RPL10
- Go to Variation Viewer for RPL10 variants
Summary
This gene encodes a ribosomal protein that is a component of the 60S ribosome subunit. The related protein in chicken can bind to c-Jun and can repress c-Jun-mediated transcriptional activation. Some studies have detected an association between variation in this gene and autism spectrum disorders, though others do not detect this relationship. There are multiple pseudogenes of this gene dispersed throughout the genome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Associated conditions
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| Description | Tests |
|---|---|
| Autism spectrum disorder MedGen: C1510586GeneReviews: Not available | See labs |
| Autism, susceptibility to, X-linked 5 | See labs |
| Intellectual disability, X-linked, syndromic, 35 | See labs |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2018-10-24) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2018-10-24) ClinGen Genome Curation Page |
Genomic context
- Location:
- Xq28
- Sequence:
- Chromosome: X; NC_000023.11 (154398065..154402339)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for RPL10 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- RPL10 @ LOVD
- Variation ViewerRelated Variants
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