Entrez gene ID | | 55131 |
Official gene symbol | | RBM28 |
Full name | | RNA binding motif protein 28 |
Aliases | | ,FLJ10377, |
Gene summary | | 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] |
Location | | Chromosome: 7 Locus: 7q32.1 |
Gene position | | 127983962 - 127950436 Map Viewer |
Gene orientation | | minus |
Gene size | | 33527 bp |
Gene sequence |
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OMIM ID | | 612074 |
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