Aliases for RBM28 Gene
External Ids for RBM28 Gene
The protein encoded by this gene is a specific nucleolar component of the spliceosomal small nuclear ribonucleoprotein (snRNP)complexes . It specifically associates with U1, U2, U4, U5, and U6 small nuclear RNAs (snRNAs), possibly coordinating their transition through the nucleolus. Mutation in this gene causes alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome), a pleiotropic and clinically heterogeneous disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
GeneCards Summary for RBM28 Gene
RBM28 (RNA Binding Motif Protein 28) is a Protein Coding gene. Diseases associated with RBM28 include alopecia, neurologic defects, and endocrinopathy syndrome and ataxia neuropathy spectrum. Among its related pathways are Ribosome biogenesis in eukaryotes. GO annotations related to this gene include RNA binding and nucleotide binding.
UniProtKB/Swiss-Prot for RBM28 Gene
Nucleolar component of the spliceosomal ribonucleoprotein complexes.