Gene Symbol | RBBP8 |
Entrez Gene ID | 5932 |
Full Name | RB binding protein 8, endonuclease |
Synonyms | COM1,CTIP,JWDS,RIM,SAE2,SCKL2 |
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 ubiquitously expressed nuclear protein. It is found among several proteins that bind directly to retinoblastoma protein, which regulates cell proliferation. This protein complexes with transcriptional co-repressor CTBP. It is also associated with BRCA1 and is thought to modulate the functions of BRCA1 in transcriptional regulation, DNA repair, and/or cell cycle checkpoint control. It is suggested that this gene may itself be a tumor suppressor acting in the same pathway as BRCA1. Three transcript variants encoding two different isoforms have been found for this gene. More transcript variants exist, but their full-length natures have not been determined. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Pancreatic carcinoma, somatic (3); Seckel syndrome 2, 606744 (3); Jawad syndrome, 251255 (3) |