HNRNPH2
Function
This protein is a component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes which provide the substrate for the processing events that pre-mRNAs undergo before becoming functional, translatable mRNAs in the cytoplasm. Binds poly(RG).
Involvement in disease
Intellectual developmental disorder, X-linked, syndromic, Bain type
MRXSB
A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSB patients manifest developmental delay, intellectual disability, autism, hypotonia, seizures, and dysmorphic facial features. Only females are affected.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Expressed ubiquitously.
Cellular localization
- Nucleus
- Nucleoplasm
Alternative names
FTP3, HNRPH2, HNRNPH2, Heterogeneous nuclear ribonucleoprotein H2, hnRNP H2, FTP-3, Heterogeneous nuclear ribonucleoprotein H', hnRNP H'