RPL10 gene

ribosomal protein L10

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From 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).

From NCBI Gene:

  • MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35
  • Autism, susceptibility to, X-linked 5

From UniProt:

Mental retardation, X-linked, syndromic, 35 (MRXS35): 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. [MIM:300998]

Autism, X-linked 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. [MIM:300847]

Cytogenetic Location: Xq28, which is the long (q) arm of the X chromosome at position 28

Molecular Location: base pairs 154,398,065 to 154,402,339 on the X chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: Xq28, which is the long (q) arm of the X chromosome at position 28
  • AUTSX5
  • DXS648
  • DXS648E
  • L10
  • MRXS35
  • NOV
  • QM