HNRNPR
Function
Component of ribonucleosomes, which are complexes of at least 20 other different heterogeneous nuclear ribonucleoproteins (hnRNP). hnRNP play an important role in processing of precursor mRNA in the nucleus.
Involvement in disease
Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities
NEDDFSB
An autosomal dominant disorder characterized by global developmental delay with impaired intellectual development and poor or absent speech, corpus callosum structural defects and cerebellar hypoplasia on brain imaging, poor overall growth, facial dysmorphism, and skeletal defects. Variable additional findings include hypotonia, seizures, and ocular defects.
None
The disease is caused by variants affecting the gene represented in this entry.
Cellular localization
- Nucleus
- Microsome
- Nucleus
- Nucleoplasm
- Cytoplasm
- Localized in cytoplasmic mRNP granules containing untranslated mRNAs. The tyrosine phosphorylated form bound to RNA is found in microsomes (By similarity).
Alternative names
HNRPR, HNRNPR, Heterogeneous nuclear ribonucleoprotein R, hnRNP R