Cotranscriptional regulator ARB2A (ARB2A)

ARB2A (Cotranscriptional regulator ARB2A) is a chromatin-associated protein involved in regulation of alternative splicing by interacting with RNA interference (siRNA) machinery and chromatin binding proteins such as Argonaute 2 (AGO2) and chromatin remodelers such as CHD7. It is predicted to contribute to siRNA binding and regulatory ncRNA-mediated heterochromatin formation, and is required for stabilizing protein-protein interactions at the chromatin-spliceosome interface. While ARB2A contains a domain with distant homology to hydrolases, its characterized function is related to RNA processing and epigenetic gene regulation rather than enzymatic hydrolysis. Disorders such as Bosch-Boonstra-Schaaf Optic Atrophy Syndrome and Cardiofaciocutaneous Syndrome 3 are associated with its genetic disruption. There are no direct drugs or established therapeutic mechanisms targeting ARB2A, and it is not used as a clinical biomarker or known to entail notable therapeutic safety concerns.

Other names

C5orf21FAM172ADKFZP564D172ToupeeCotranscriptional regulator FAM172AProtein FAM172ALOC108705294LOC108717391si:dkey-172f14.1zgc:64188