RPL10 est un gène codé par le symbole RPL10. Il est également connu sous le nom de: 60S ribosomal protein L10; Laminin receptor homolog; Large ribosomal subunit protein uL16; Protein QM; Ribosomal protein L10; Tumor suppressor QM; DXS648E; QM. RPL10 a une masse de 24.6kDa, une longueur d'acide aminé de 214, et est impliqué dans les maladies: Autism, X-linked 5; Mental retardation, X-linked, syndromic, 35.
Nous proposons 6 des anticorps contre RPL10, élevé dans Lapin, qui sont appropriés pour le WB et ELISA avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
Component of the large ribosomal subunit (PubMed:26290468). Plays a role in the formation of actively translating ribosomes (PubMed:26290468). May play a role in the embryonic brain development (PubMed:25316788).
Résumé Entrez
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.
Implication dans la maladie
Autism, X-linked 5: 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.
Mental retardation, X-linked, syndromic, 35: A mental retardation syndrome characterized by intellectual deficit, delayed psychomotor development, poor speech, and dysmorphic features. Mental retardation is defined by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
Similitudes de séquence
Belongs to the universal ribosomal protein uL16 family.
Modification post-traductionnelle
Citrullinated by PADI4.
