Aliases for TSPEAR Gene
External Ids for TSPEAR Gene
Previous HGNC Symbols for TSPEAR Gene
Previous GeneCards Identifiers for TSPEAR Gene
This gene encodes a protein that contains a N-terminal thrombospondin-type laminin G domain and several tandem arranged epilepsy-associated repeats (EARs). A mutation in this gene is the cause of autosomal recessive deafness-98. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
GeneCards Summary for TSPEAR Gene
TSPEAR (Thrombospondin Type Laminin G Domain And EAR Repeats) is a Protein Coding gene. Diseases associated with TSPEAR include Deafness, Autosomal Recessive 98 and Ectodermal Dysplasia 14, Hair/Tooth Type With Or Without Hypohidrosis.
UniProtKB/Swiss-Prot Summary for TSPEAR Gene
Plays a critical role in tooth and hair follicle morphogenesis through regulation of the Notch signaling pathway (PubMed:27736875). May play a role in development or function of the auditory system (PubMed:22678063).