BAFL Background Information
Belonging to the BAF protein family, BAFL (barrier-to-autointegration factor-like protein) is a 90 amino acid protein that plays a role in the regulation of BAF, a protein that influences nuclear assembly, gene expression, gonad development and chromatin organization. Predominantly residing in the nucleus, BAFL exists as either a homodimer or as a heterodimer with BAF. Together, the BAF/BAFL heterodimer binds to DNA to regulate gene transcription, however the DNA interaction is only made possible through the BAF subunit, as BAFL does not bind DNA. BAFL is highly expressed in pancreas and testis, and has been shown to be upregulated during spermiogenesis. Both heart and skeletal muscle are tissues affected in Emery-Dreifuss muscular dystrophy (EDMD) and it is suggested that these tissues are more vulnerable to the loss of emerin and Lamin A due to the lack of regulation of BAF, which binds both proteins that are implicated in EDMD. Significantly, no expression of BAFL was found in skeletal tissue, kidney or heart.
