TTLL8

Chr 22

tubulin tyrosine ligase like 8

NCBI Gene: 164714 ENSG00000138892 UniProt: A6PVC2 OMIM: 619193

This protein is a monoglycylase that adds glycine modifications to tubulin and other proteins, which is essential for microtubule stability and maintenance in cilia and sperm flagella. Mutations cause autosomal recessive primary ciliary dyskinesia, a disorder affecting respiratory function, fertility, and sometimes organ positioning due to defective ciliary motility. The gene shows minimal constraint against loss-of-function variants in the general population.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable protein-glycine ligase activity, initiating. Predicted to be involved in several processes, including axoneme assembly; flagellated sperm motility; and protein polyglycylation. Predicted to act upstream of or within cilium assembly. Predicted to be located in cilium. Predicted to be active in axoneme; microtubule cytoskeleton; and sperm flagellum. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.03

LOEUF

GOF

Mechanism· predicted