Gene Symbol | SF3B4 |
Entrez Gene ID | 10262 |
Full Name | splicing factor 3b subunit 4 |
Synonyms | AFD1,Hsh49,SAP49,SF3b49 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Acrofacial dysostosis 1, Nager type, 154400 (3) |