Jan 25, 2024
RNA-binding protein 28
RNA-binding protein RBM28 is a constituent of spliceosomal small nuclear ribonucleoproteins within the nucleolus (Lin et al., 2022). It responds to nucleolar stress and associates specifically with U1, U2, U4, U5, and U6 small nuclear RNAs (snRNAs), potentially coordinating their movement within the nucleolus.
Compound heterozygous changes in this gene were identified in a UDN participant.
| Gene | Inheritance | Position (hg19) | Transcript | DNA Change | Protein Change |
|---|---|---|---|---|---|
| RBM28 | Autosomal recessive | chr7:g.127957755C>T & chr7:g.127961390_ 127961393dup | NM_018077.2 | c.1745G>A & c.1489_1492dupGCTG | p.Arg582Gln & p.Val498GlyfsTer4 |
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