RPL10 Antibody – Mouse Monoclonal

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]

RPL10: Defects in RPL10 are a cause of susceptibility to autism X-linked type 5 (AUTSX5). A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation. RPL10 is involved in autism only in rare cases. Two hypomorphic variants affecting the translation process have been found in families with autism spectrum disorders, suggesting that aberrant translation may play a role in disease mechanisms. Belongs to the ribosomal protein L10e family.

Protein type: Translation; Ribosomal

Chromosomal Location of Human Ortholog: Xq28

Cellular Component: membrane; endoplasmic reticulum; cytosol

Molecular Function: protein binding; structural constituent of ribosome

Biological Process: SRP-dependent cotranslational protein targeting to membrane; cellular protein metabolic process; translational elongation; viral reproduction; translation; mRNA catabolic process, nonsense-mediated decay; translational initiation; gene expression; viral transcription; viral infectious cycle; translational termination

Disease: Autism, Susceptibility To, X-linked 5