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Our study provides new insights into how RBPs, and specifically SNRPB, regulate gene expression and directly impact GBM development.
These results confirm the specificity of SNRPB mutations in CCMS and provide further evidence for the role of spliceosomal proteins in craniofacial and thoracic development.
Mutations in the regulatory alternative exon of SNRPB disrupted it's auto-regulation and caused cerebro-costo-mandibular syndrome.
Cerebro-costo-mandibular syndrome is due to heterozygous mutations in SNRPB.
Highly mobile SmB protein-trafficking vesicles in neural cells are dependent on the cellular levels of SMN and SmB for their morphology and mobility.
in addition to affecting coilin-coilin (show COIL Proteins) interaction and localization in the nucleus, the phosphorylation state of coilin (show COIL Proteins) also impacts its interaction with SMN (show STMN1 Proteins) and SmB' and may play a role in controlling U snRNP (show LSM2 Proteins) cycling through the Cajal bodies.
The protein encoded by this gene is one of several nuclear proteins that are found in common among U1, U2, U4/U6, and U5 small ribonucleoprotein particles (snRNPs). These snRNPs are involved in pre-mRNA splicing, and the encoded protein may also play a role in pre-mRNA splicing or snRNP structure. Autoantibodies from patients with systemic lupus erythematosus frequently recognize epitopes on the encoded protein. Two transcript variants encoding different isoforms (B and B') have been found for this gene.
SNRPN upstream reading frame
, zinc finger protein 343
, small nuclear ribonucleoprotein-associated protein B'
, sm protein B'
, small nuclear ribonucleoprotein B'
, small nuclear ribonucleoprotein-associated protein N
, small nuclear ribonucleoprotein-associated proteins B and B' isoform B'
, mRNA splicing factor
, sm protein B
, small nuclear ribonucleoprotein-associated protein B
, B polypeptide of Sm protein
, Sm protein B/B'
, small nuclear ribonucleoprotein polypeptide B
, small nuclear ribonucleoprotein polypeptides B and B'
, small nuclear ribonucleoprotein-associated proteins B and B'
, snRNP-associated protein
, small nuclear ribonucleoprotein B
, small nuclear ribonucleoprotein polypeptide B/B'
, small nuclear ribonucleoprotein polypeptide B/B' isoform B'