Myosin-IH (MYO1H)

Myosin-IH is a human unconventional myosin encoded by the MYO1H gene, located on chromosome 12[1][3][4]. It belongs to the myosin-I subfamily of actin-dependent molecular motor proteins, specifically classified as a short-tailed myosin-I[6]. MYO1H is involved in intracellular transport processes, moving cellular structures such as membranes along actin filaments via ATP-dependent mechanisms[1][4][6]. Its structure typically includes a motor domain with ATPase activity, a lever-arm light chain-binding domain, and a tail with a pleckstrin homology domain that binds cellular membranes[6]. MYO1H plays a role in actin filament organization, vesicle trafficking, and endocytosis[1][3][4]. MYO1H is implicated in congenital central hypoventilation syndrome type 2 (CCHS2) and related autonomic dysfunctions[1][4]. It is highly expressed in testis, with lesser expression in other tissues[6]. It is not established as a direct drug target and no small molecule or biologic drugs are known to modulate MYO1H activity[1][4][6]. There are no known therapeutic safety concerns or widespread use as a biomarker, though MYO1H variation has been suggested as a risk marker associated with certain craniofacial phenotypes such as mandibular prognathism[6]. MYO1H is distinct from myosin heavy chain family genes (MYH), which are involved in muscle contraction; MYO1H instead acts in diverse cell types, mediating intracellular movement and organization[2][4][6].

Other names

Unconventional myosin-IhMyosin-1HFLJ37587CCHS24631401O15RikAABR07036550.1LOC108352465myosin IHmyosin 1H