RPL10

Chr XXLR

ribosomal protein L10

Also known as: AUTSX5, DXS648, DXS648E, L10, MRXS35, NOV, QM, uL16

NCBI Gene: 6134 ENSG00000147403 UniProt: P27635 OMIM: 312173

This gene encodes a ribosomal protein that is a component of the 60S ribosome subunit and plays a role in forming actively translating ribosomes. Mutations cause X-linked intellectual developmental disorder with syndromic features and have been associated with autism spectrum disorders, inherited in an X-linked recessive pattern. The gene shows high constraint against loss-of-function variants, suggesting mutations predominantly cause disease through haploinsufficiency or loss-of-function mechanisms.

OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

{Autism, susceptibility to, X-linked 5}MIM #300847

Intellectual developmental disorder, X-linked syndromic 35MIM #300998

XLR

UniProtAutism, X-linked 5

Clinical highlights

Gene-disease validity (ClinGen)

X-linked syndromic intellectual disability · XLDefinitivesufficient evidence for diagnostic panels

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

0.39

LOEUF

LOF

Mechanism· predicted