SF3B4

SF3B4

A gene on chromosome 1q21.2 that encodes subunit 4 of the splicing factor SF3B, which is required for “A” complex assembly by the stable binding of U2 snRNP to the branchpoint sequence in pre-mRNA. It may anchor U2 snRNP to pre-mRNA and be involved in the assembly of the “E” complex. SF3B4 is also found in complexes B and C and belongs to the U12-dependent spliceosome, which is involved in splicing the nuclear pre-mRNA intron.
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Dort ailede ise iliskili genlerdeki (SF3B4, SALL4, TBX5, FANCA) mutasyonlar calisma oncesinde molekuler analizlerle belirlenmisti.
Aile RID-7'den Nager sendromu klinik tanili indeks olgu ve anne-babasina ait EDTA'li kanlar, molekuler analiz icin arastirma kapsaminda yurtdisina (Dagmar Wieczorek, Institut fur Humangenetik, University Duisburg, Essen, Germany) gonderilmis ve indeks olguda, Nager sendromu ile iliskili SF3B4 geninin 6.
Nager sendromu klinik tanili olgu RID-7'de, SF3B4 geninde saptanan c.1147delC mutasyonu, protein duzeyinde 383.