Thrombospondin-type laminin G domain and EAR repeat-containing protein (TSPEAR)

Thrombospondin-type laminin G domain and EAR repeat-containing protein (TSPEAR) is a protein encoded by the TSPEAR gene, characterized by a thrombospondin-type laminin G domain at the N-terminus and tandem epilepsy-associated repeats (EARs) that likely fold into a β-propeller structure[1][2][6]. TSPEAR plays an important role in the development and morphogenesis of teeth and hair follicles, primarily by regulating the Notch signaling pathway in ectodermal tissues[2][5][6][8]. Pathogenic mutations in TSPEAR are causative for ectodermal dysplasia type 14 (ARED14), congenital hypodontia/tooth agenesis, hypotrichosis, and sometimes sensorineural deafness (autosomal recessive deafness-98)[1][2][3][5]. TSPEAR is additionally implicated in WNT ligand sequestration in the extracellular matrix, hinting at broader roles in developmental signaling[3]. TSPEAR is not a classical therapeutic target such as a receptor, enzyme, or transporter, and no drugs are currently known to act on this protein; its clinical relevance is primarily genetic and diagnostic[2][3][5][6].

Other names

C21orf29DFNB98ECTD14STHAG10TSP-EARMGC11251ORF65Tnep1C330046G03Rikthrombospondin type laminin G domain and EAR repeats

null (no drugs target TSPEAR directly; pathogenicity relates to loss-of-function mutations affecting Notch pathway regulation and possibly WNT signaling)[2][3][6]