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SF3B4 encodes one of four subunits of the splicing factor 3B. Zusätzlich bieten wir Ihnen Splicing Factor 3b, Subunit 4, 49kDa Antikörper (90) und viele weitere Produktgruppen zu diesem Protein an.
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Sf3b4-depleted embryos show reduced expression of the neural crest genes sox10 (zeige SOX10 Proteine), snail2 and twist at the neural plate border, associated with a broadening of the neural plate. This phenotype can be rescued by injection of wild-type human SF3B4 mRNA but not by mRNAs carrying mutations that cause Nager syndrome.
We identified two heterozygous frameshift mutations in the SF3B4 gene in three of the four fetuses investigated. The observed mutation was apparently de novo in one fetus for whom parental DNA was available. Thus, Acrofacial dysostosis syndrome of Rodriguez is an autosomal dominant condition and the recurrences identified in the initial report were likely due to gonadal mosaicism.
A novel synonymous variant within exon 3 of the SF3B4 gene was identified in three members of a family affected by Nager syndrome.
Chemical shift mapping showed that the SF3b145 (zeige SF3B2 Proteine) fragment spanning residues 598-631 interacts with SF3b49 RRM1 (zeige RRM1 Proteine), which adopts a canonical RRM fold with a topology of beta1-alpha1-beta2-beta3-alpha2-beta4.
SF3B4 mutations identified in Rodriguez Acrofacial Dysostosis patients disrupted mRNA splicing and reduced expression of DLX5, DLX6, SOX9, and SOX6 in cultured chondrocytes.
splicing factor 3b subunit 4 was found to inhibit the activity of signal transducer and activator of transcription 3 (zeige STAT3 Proteine) signaling via downregulating the phosphorylation of signal transducer and activator of transcription 3 (zeige STAT3 Proteine) on a tyrosine residue at position 705.
Overexpression of SF3B4, that is due to DNA copy number increase, is suggested to play a role in progression of HCC (zeige FAM126A Proteine)
High SF3B4 expression is associated with hepatocellular carcinoma.
SF3B4 haploinsufficiency confirmed as the major cause of Nager syndrome.
SF3B4 mutation is associated with Nager syndrome.
These results suggest that most cases of Nager syndrome are caused by haploinsufficiency of SF3B4.
This gene encodes one of four subunits of the splicing factor 3B. The protein encoded by this gene cross-links to a region in the pre-mRNA immediately upstream of the branchpoint sequence in pre-mRNA in the prespliceosomal complex A. It also may be involved in the assembly of the B, C and E spliceosomal complexes. In addition to RNA-binding activity, this protein interacts directly and highly specifically with subunit 2 of the splicing factor 3B. This protein contains two N-terminal RNA-recognition motifs (RRMs), consistent with the observation that it binds directly to pre-mRNA.
splicing factor 3B subunit 4
, splicing factor 3b, subunit 4, 49kD
, spliceosome associated protein 49
, SAP 49
, pre-mRNA-splicing factor SF3b 49 kDa subunit
, spliceosomal protein
, spliceosome-associated protein (U2 snRNP)
, spliceosome-associated protein 49