Xinβ Background Information
Xin∫, also known as CMYA3 (cardiomyopathy-associated protein 3) or XIRP2 (xin actin-binding repeat containing 2), is a 3,374 amino acid protein that co-localizes with Actin stress fibers at the cell junction and contains 28 Xin repeats. Interacting with with F-Actin and å-actinin-2, Xin∫ functions to protect Actin filaments from depolymerization, thereby playing an important role in Actin organization and structural maintenance. Multiple isoforms of Xin∫ exist due to alternative splicing events. The gene encoding Xin∫ maps to human chromosome 2, which houses over 1,400 genes and comprises nearly 8% of the human genome. Harlequin icthyosis, a rare and morbid skin deformity, is associated with mutations in the ABCA12 gene, while the lipid metabolic disorder sitosterolemia is associated with defects in the ABCG5 and ABCG8 genes. Additionally, an extremely rare recessive genetic disorder, Alström syndrome, is caused by mutations in the ALMS1 gene, which maps to chromosome 2.
