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RPS26 ribosomal protein S26

Also known as: S26; DBA10

Summary

This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S26E family of ribosomal proteins. Mutations in this gene are found in Diamond-Blackfan anemia 10. There are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Aug 2017]

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2014-09-25)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2014-09-25)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
12q13.2
Sequence:
Chromosome: 12; NC_000012.12 (56041902..56044223)
Total number of exons:
4

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