RPL8

Chr 8

ribosomal protein L8

Also known as: L8, uL2

NCBI Gene: 6132 ENSG00000161016 UniProt: P62917

The protein is a component of the large 60S ribosomal subunit that participates in protein synthesis and likely contributes to aminoacyl-tRNA binding. Mutations cause Diamond-Blackfan anemia, an autosomal dominant ribosomopathy characterized by early-onset anemia, growth retardation, and congenital malformations. The gene is highly constrained against loss-of-function variants (pLI 0.96, LOEUF 0.31), consistent with the dominant inheritance pattern observed in affected families.

ResearchSummary from RefSeq, 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 L2P family of ribosomal proteins. It is located in the cytoplasm. In rat, the protein associates with the 5.8S rRNA, very likely participates in the binding of aminoacyl-tRNA, and is a constituent of the elongation factor 2-binding site at the ribosomal subunit interface. Alternatively spliced transcript variants encoding the same protein exist. 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]

ResearchGenerating clinical summary…

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)

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P/LP submissions

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P/LP missense

0.31

LOEUF· LoF intol.

LOF

Mechanism· predicted

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