機能May play a role as coactivator in transcriptional activation by hormone-activated nuclear receptors (NR) and acts in cooperation with NCOA2 and CARM1. Involved in estrogen hormone signaling. Involved in early embryonic development (By similarity). May play a role in regulation of cytoskeletal rearrangements involved in cytokinesis and cell migration.
組織特異性Strongest expression in skeletal muscle with high expression also in the heart and lung.
関連疾患Deletion of the FLII gene may be a cause of Smith-Magenis syndrome (SMS) [MIM:182290]. It is a contiguous gene deletion syndrome involving developmental abnormalities and mental retardation. The spectrum of clinical findings includes short stature, brachydactyly, developmental delay, dysmorphic features, sleep disturbances, and behavioral problems.
細胞内局在Nucleus. Cytoplasm > cytoskeleton. Cytoplasm > cytoskeleton > centrosome. Colocalizes to actin-rich structures in blastocysts and, together with HRAS1, RHOA and CDC42, in migrating fibroblasts. Localizes to centrosomes.