RBM28

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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References in periodicals archive ?
Ishida-Yamamoto et al., "Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis, " American Journal of Human Genetics, vol.
Caption: Figure 4: Pathogenic mechanisms underlying motor neuron disease in children of these genetic variants associated with paediatric motor neuron diseases relate to disordered regulation of autophagy/protein quality control (ASAH1, UBE1, UBQLN1, LYST, ATXN3, and SCP2), RNA processing (VRK1, EXOSC3, EXOSC8, TSEN54, SLC254A6, MORC2, SMN1, TRIP4, ASCC1, UBA1, GLE1, ERBB3, IGHMBP2, and RBM28), and cytoskeletal dynamics (ASAH1, BICD2, and DYNC1H1).