Gene Symbol | RBPJ |
Entrez Gene ID | 3516 |
Full Name | recombination signal binding protein for immunoglobulin kappa J region |
Synonyms | AOS3,CBF1,IGKJRB,IGKJRB1,KBF2,RBP-J,RBPJK,RBPSUH,SUH,csl |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene is a transcriptional regulator important in the Notch signaling pathway. The encoded protein acts as a repressor when not bound to Notch proteins and an activator when bound to Notch proteins. It is thought to function by recruiting chromatin remodeling complexes containing histone deacetylase or histone acetylase proteins to Notch signaling pathway genes. Several transcript variants encoding different isoforms have been found for this gene, and several pseudogenes of this gene exist on chromosome 9. [provided by RefSeq, Oct 2013]. |
Disorder MIM: | |
Disorder Html: | Adams-Oliver syndrome 3, 614814 (3) |