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rbm28

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Official Full Name
RNA binding motif protein 28
Background
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.
Synonyms
RBM28; RNA binding motif protein 28; RNA-binding protein 28; FLJ10377; 2810480G15Rik; zgc:56258