RPS15A

Chr 16

ribosomal protein S15a

Also known as: DBA20, S15a, uS8

NCBI Gene: 6210 ENSG00000134419 UniProt: P62244

RPS15A encodes a ribosomal protein that is a component of the small 40S ribosomal subunit and is required for proper erythropoiesis. Mutations cause Diamond-Blackfan anemia 20, a disorder primarily affecting red blood cell production, with autosomal dominant inheritance. The gene is highly constrained against loss-of-function variants (LOEUF 0.559), reflecting its essential role in ribosome function.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S8P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDiamond-Blackfan anemia 20

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.56

LOEUF

LOF

Mechanism· predicted

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GeneReview available — RPS15A