Gene Symbol | RBM28 |
Entrez Gene ID | 55131 |
Full Name | RNA binding motif protein 28 |
Synonyms | ANES |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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, Oct 2009]. |
Disorder MIM: | |
Disorder Html: | ?Alopecia, neurologic defects, and endocrinopathy syndrome, 612079 (3) |