TTLL2

Chr 6

tubulin tyrosine ligase like 2

Also known as: C6orf104, NYD-TSPG, dJ366N23.3

NCBI Gene: 83887 ENSG00000120440 UniProt: Q9BWV7

The protein is a tubulin polyglutamylase that modifies tubulin by adding glutamate side chains to microtubules, which is important for microtubule function and ciliary structure. Mutations cause autosomal recessive retinal dystrophy and cone-rod dystrophy, affecting vision through photoreceptor degeneration. The gene shows tolerance to loss-of-function variants, consistent with its recessive inheritance pattern.

ResearchSummary from RefSeq, UniProt

Predicted to enable tubulin binding activity and tubulin-glutamic acid ligase activity. Predicted to be involved in microtubule cytoskeleton organization. Predicted to be active in ciliary basal body. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.87

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)