RPL10
Developmental stage
Down-regulated during adipocyte, kidney, and heart differentiation.
Function
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).
Involvement in disease
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 intellectual disability.
None
Disease susceptibility is associated with variants affecting the gene represented in this entry. 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.
Intellectual developmental disorder, X-linked, syndromic 35
MRXS35
A syndrome characterized by intellectual deficit, delayed psychomotor development, poor speech, and dysmorphic features.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Citrullinated by PADI4.
Ufmylated by UFL1.
Sequence Similarities
Belongs to the universal ribosomal protein uL16 family.
Cellular localization
- Cytoplasm
Alternative names
DXS648E, QM, RPL10, Large ribosomal subunit protein uL16, 60S ribosomal protein L10, Laminin receptor homolog, Protein QM, Ribosomal protein L10, Tumor suppressor QM