靶标:
TCTN1
产品别名:
JBTS13; TECT1; TCTN1; tectonic family member 1; tectonic family member 1; tectonic-1; 结构蛋白家族1;
背景信息:
This gene encodes a member of a family of secreted and transmembrane proteins. The orthologous gene in mouse functions downstream of smoothened and rab23 to modulate hedgehog signal transduction. This protein is a component of the tectonic-like complex, which forms a barrier between the ciliary axoneme and the basal body. A mutation in this gene was found in a family with Joubert syndrome-13. Alternative splicing results in multiple transcript variants.