菜单 基因医生

ttl是一种参与α-微管蛋白翻译后修饰的胞浆酶(见mim 602529)。聚集微管内的α-微管蛋白随着时间在C末端被去甲状腺激素化微管解体后,TTL恢复酪氨酸残基,从而参与微管蛋白去酪氨酸酶和酪氨酸酶的循环(ERCK等人,2003【PubMed 14571137】。【OMIM提供,2008年3月】
TTL is a cytosolic enzyme involved in the posttranslational modification of alpha-tubulin (see MIM 602529). Alpha-tubulin within assembled microtubules is detyrosinated over time at the C terminus. After microtubule disassembly, TTL restores the tyrosine residues and consequently participates in a cycle of tubulin detyrosination and tyrosination (Erck et al., 2003 [PubMed 14571137]).[supplied by OMIM, Mar 2008]

基因名:TTL
别名:
基因ID:150465
Chromosome:
(GRCh37)
2 Start: 113239743 End: 113290223 Strand: 
信号通路:  
TTL 基因突变与药物