SMTNL2 Antibody / Smoothelin-like protein 2

The cytoskeletal protein smoothelin is highly conserved among vertebrates and is expressed exclusively by contractile smooth muscle cells where it localizes to the filament network. Smoothelin associates with Actin stress fibers but does not interact with Desmin. SMTNL2 (smoothelin-like 2), also known as FLJ42461, MGC131847 or MGC138382, is a 461 amino acid protein belonging to the smoothelin family. Containing a single CH (calponin-homology) domain, SMTNL2 is considered an Actin binding protein. SMTNL2 exists as two isoforms produced by alternative splicing events and is encoded by a gene mapping to human chromosome 17. Human chromosome 17 comprises over 2.5% of the human genome and encodes over 1,200 genes. Two key tumor suppressor genes are associated with chromosome 17, namely, p53 and BRCA1. Tumor suppressor p53 is necessary for maintenance of cellular genetic integrity by moderating cell fate through DNA repair versus cell death. Malfunction or loss of p53 expression is associated with malignant cell growth and Li-Fraumeni syndrome. Like p53, BRCA1 is directly involved in DNA repair, though specifically it is recognized as a genetic determinant of early onset breast cancer and predisposition to cancers of the ovary, colon, prostate gland and fallopian tubes.