Disease-gene associations mined from literature

Literature associating SF3B4 and mandibulofacial dysostosis, Guion-Almeida type

SF3B4 [ENSP00000271628]

Pre-mRNA-splicing factor SF3b 49 kDa subunit; 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 ...

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