RBM28

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RBM28

A gene on chromosome 7q32.1 that encodes a nucleolar component of the spliceosomal small nuclear ribonucleoprotein (snRNP) complex, which associate with U1, U2, U4, U5 and U6 small nuclear RNAs (snRNAs).
 
Molecular pathology
RBM28 mutation causes ANE syndrome (alopecia, neurological defects and endocrinopathy).
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