Transmembrane anterior posterior transformation protein 1 homolog (TAPT1)

Transmembrane anterior posterior transformation protein 1 homolog (TAPT1) is a conserved, membrane‐spanning protein primarily associated with the centrosome and ciliary basal body in cells[3]. TAPT1 plays a critical role in the organization of the extracellular matrix (ECM), collagen type I secretion, Golgi apparatus morphology, and ciliogenesis. Mutations in TAPT1 have been identified as a genetic cause of both severe, often lethal skeletal disorders resembling osteogenesis imperfecta (OI) and ciliopathies, producing phenotypes like bone fragility, short stature, delayed bone formation, and a range of developmental abnormalities affecting other organs[1][2][3]. Mechanistically, TAPT1 is required for proper ECM assembly—especially of collagen type I—and for correct functioning and formation of the primary cilium, a key signaling and organizational center of the cell. The protein may also be involved in regulating gene expression related to bone remodeling, such as through secreted frizzled‐related protein 1 (SFRP1)[1][2]. TAPT1 itself is not a direct therapeutic target (e.g., not a receptor, enzyme, or transporter) but represents an essential structural and functional component in skeletal development and ciliary function. There are currently no known drugs that interact directly with TAPT1. Key literature identifies TAPT1's significance in ECM organization, ciliary formation, and related developmental disorders but indicates that many details of its molecular mechanisms remain to be defined[1][2][3].

Other names

Cytomegalovirus partial fusion receptorCMVFRFLJ90013OCLSBG