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].
Nousbeck, Spiegel, Ishida-Yamamoto, Indelman, Shani-Adir, Adir, Lipkin, Bercovici, Geiger, van Steensel, Steijlen, Bergman, Bindereif, Choder, Shalev, Sprecher: "Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis." in: American journal of human genetics, Vol. 82, Issue 5, pp. 1114-21, (2008) (PubMed).
Suzuki, Yoshitomo-Nakagawa, Maruyama, Suyama, Sugano: "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library." in: Gene, Vol. 200, Issue 1-2, pp. 149-56, (1997) (PubMed).
Aliases for RBM28 抗体
RNA binding motif protein 28 (RBM28) 抗体 RNA binding motif protein 28 (rbm28) 抗体 RNA binding motif protein 28 (Rbm28) 抗体 2810480G15Rik 抗体 AI503051 抗体 RBM28 抗体 zgc:56258 抗体