Tubulin polyglutamylase TTLL5 (TTLL5)

TTLL5 (Tubulin polyglutamylase TTLL5) is an enzyme that catalyzes the polyglutamylation of tubulin, generating polyglutamate side chains essential for microtubule stability and function[1][6]. The protein preferentially modifies the C-terminal tail of α-tubulin and plays a central role in the function of cilia, especially in photoreceptor cells. TTLL5 acts both as an enzyme for tubulin posttranslational modification and as a transcriptional coregulator with nuclear receptors such as the glucocorticoid and androgen receptors[1][7]. TTLL5 is critical for proper photoreceptor cilium function, and loss-of-function or pathogenic missense mutations cause inherited retinal diseases, most notably cone-rod dystrophy type 19 (CORD19), a ciliopathy characterized by progressive vision loss due to cone and rod photoreceptor dysfunction[2][5]. Mutations in TTLL5 may also affect other cilia-dependent processes, such as sperm motility[5]. No small-molecule drugs or direct modulators are currently known to target TTLL5 directly in the clinic.

Other names

KIAA0998STAMPSTAMP proteinSRC1 and TIF2-associated modulatory proteinTubulin tyrosine ligase-like family member 5CORD19tubulin tyrosine ligase like 5