Cardiac-enriched FHL2-interacting protein (CEFIP)

Cardiac-enriched FHL2-interacting protein (CEFIP), encoded by the *C10orf71* gene on human chromosome 10, is a large (1,435 amino acid, ~156 kDa) intrinsically disordered protein highly and specifically expressed in cardiac and skeletal muscle[1][2]. It is a soluble, predominantly nuclear and myofilament-localized protein essential for normal heart development and contractile function[1][2]. *C10orf71* plays a major role in sarcomere (Z-disc) organization and maintenance of contractile gene expression and splicing in cardiomyocytes[2]. Frameshift or loss-of-function variants in *C10orf71* cause familial and sporadic dilated cardiomyopathy via impaired contractility, without direct effects on sarcomere structure[2]. The protein does not belong to well-characterized families such as receptors, channels, or enzymes, and its pathophysiological role is primarily structural and regulatory rather than enzymatic or as a druggable receptor[1][2]. Experimental myosin activators (such as omecamtiv mecarbil) may be effective for individuals with C10orf71 dysfunction, but these are not C10orf71-targeted agents[2].

Other names

C10orf71FLJ45913cardiac enriched FHL2-interacting proteinCMD1QQuncharacterized protein C10orf71

Targeting downstream contractile apparatus; not direct ligand/receptor targeting of C10orf71[2]