RPL13

Chr 16AD

ribosomal protein L13

Also known as: BBC1, D16S444E, D16S44E, L13, SEMDIST, eL13

NCBI Gene: 6137 ENSG00000167526 UniProt: P26373 OMIM: 113703

This protein is a component of the large 60S ribosomal subunit that catalyzes peptide bond formation during protein synthesis and plays a role in bone development. Mutations cause spondyloepimetaphyseal dysplasia, Isidor-Toutain type, inherited in an autosomal dominant pattern. The gene is highly constrained against loss-of-function variants (pLI 0.95, LOEUF 0.32), suggesting intolerance to protein loss.

OMIM 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 60S subunit. The protein belongs to the L13E family of ribosomal proteins. It is located in the cytoplasm. This gene is expressed at significantly higher levels in benign breast lesions than in breast carcinomas. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2011]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Spondyloepimetaphyseal dysplasia, Isidor-Toutain typeMIM #618728

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.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.32

LOEUF· LoF intol.

LOF

Mechanism· predicted