Xin actin-binding repeat-containing protein 1 (XIRP1)

Xin actin-binding repeat-containing protein 1 (XIRP1) is a striated muscle cytoskeletal protein highly expressed in the heart, where it stabilizes actin filaments and organizes cell adhesion components at the intercalated disk[2][1]. XIRP1 acts as a scaffolding protein, directly interacting with actin and key junctional and signaling proteins such as filamin, cortactin, β-catenin, and KChIP2, which are essential for the correct localization and function of cardiac ion channels that govern cardiac action potential and conduction[1]. Loss of XIRP1 results in disrupted cardiac intercalated disk architecture, decreased density and mislocalization of ion channels, and impaired cardiac electrophysiology, with knockout mouse models developing arrhythmias, conduction defects, and structural cardiomyopathy[1][2][3]. In human genetics, rare deleterious variants in XIRP1 have been associated with Brugada syndrome and sudden unexplained nocturnal death syndrome; XIRP1 is considered a candidate gene for inherited cardiac arrhythmia disorders[1][3]. XIRP1 also contributes to normal skeletal muscle structure, injury recovery, and muscle satellite cell activation[2]. Note: No current drugs directly target XIRP1, and no mechanisms of action for drugs on this protein are described in existing literature. It is classified as a "candidate target" due to genetic evidence linking its function to cardiac disease[3].

Other names

Cardiomyopathy-associated protein 1CMYA1XinDKFZp451D042Cardiomyopathy associated 1xin actin binding repeat containing 1XIRP1Xin actin-binding repeat-containing protein 1