SMARCAL1 Antibody

The SMARCs (SWI/SNF-related, matrix-associated, actin-dependent regulators of chromatin), and BAFs (BRG1-associated factors), have been identified as components of the mammalian SWI/SNF-like chromatin-remodeling protein complexes. These multi-protein complexes are proposed to function as ATP-driven motors that translocate along DNA and destabilize nucleosomal structures to facilitate transcription factor binding. SMARCAL1 is a member of the SNF2 family. SMARCAL1 is also known as human hep-related protein (HARP) due to its sequence identity with the E. coli RNA polymerase-binding protein HepA. It has been determined that mutations in SMARCAL1 are the cause of Schimke immuno-osseous dysplasia (SIOD), an autosomal-recessive disorder characterized by spondyloepiphyseal dysplasia, renal dysfunction, facial dysmorphism, and T-cell immunodeficiency. The pleiotropic characteristics of SIOD indicate an important role for SMARCAL1 in the regulation of multiple genes that influence the proliferation of chondrocytes, lymphocytes, and spermatozytes, as well as the development of cardiomyocytes and vascular homeostasis.
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