Predicted to enable several functions, including ATP hydrolysis activity; ATP-dependent chromatin remodeler activity; and histone binding activity. Involved in several processes, including face development; nervous system development; and regulation of growth hormone secretion. Located in nucleolus and nucleoplasm. Implicated in CHARGE syndrome and hypogonadotropic hypogonadism 5 with or without anosmia.
RGD Description
This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found in some patients with the CHARGE syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]