Literature associating SF3B4 and Charcot-Marie-Tooth disease X-linked recessive 4
SF3B4 [ENSP00000271628]
Splicing factor 3B subunit 4; Involved in pre-mRNA splicing as a component of the splicing factor SF3B complex . SF3B complex is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA . May also be involved in the assembly of the 'E' complex. SF3B4 has been found in complex 'B' and 'C' as well . Belongs also to the minor U12- dependent spliceosome, which is involved in the splicing of rare class of nuclear pre-mRNA intron .
Synonyms: SF3B4, SF3B4p, hSF3B4, Q15427, Q5SZ64 ...