Disease relevance of Rbbp7

• We have also excluded human RBBP7 as a candidate gene in six patients that exhibit X-linked mental retardation, a heterogeneous developmental disorder that has been linked in some cases to mutations in genes involved in chromatin remodeling [1].

High impact information on Rbbp7

• We found that Rbbp7 contains a TATA-less promoter with multiple transcription initiation sites [1].
• The mouse gene Rbbp7 spans approximately 20 kb, consists of at least 12 exons, and contains a C/T polymorphism in the 3' splice acceptor region of intron 3 [1].
• Characterization of the gene encoding mouse retinoblastoma binding protein-7, a component of chromatin-remodeling complexes [1].
• Consistent with its association with co-repressor complexes, we demonstrate that RBBP7 represses the c-FOS transactivation domain in response to mitogen stimulation [1].
• RBBP7 protein is detectable from at least day 9.5 of embryogenesis and is strongly expressed in the developing kidney and brain [1].

References