Thrombospondin-type laminin G domain and EAR repeat-containing protein

Definition:

Plays a critical role in tooth and hair follicle morphogenesis through regulation of the Notch signaling pathway. May play a role in development or function of the auditory system.

References:

[1]. Alon Peled, et al. Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis. PLoS Genet. 2016 Oct 13;12(10):e1006369. [Content Brief]

[2]. Sedigheh Delmaghani, et al. Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness. Hum Mol Genet. 2012 Sep 1;21(17):3835-44. [Content Brief]

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