TTLL7

Chr 1

tubulin tyrosine ligase like 7

NCBI Gene: 79739 ENSG00000137941 UniProt: Q6ZT98 OMIM: 618813

The protein functions as a polyglutamylase that modifies tubulin by generating polyglutamate side chains on tubulin tails, preferentially targeting beta-tubulin and playing a critical role in neurite growth and postnatal neuronal maturation. Mutations cause autosomal recessive retinal dystrophy and cone-rod dystrophy, affecting vision typically in childhood or adolescence. The gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely incompatible with normal development.

OMIM ResearchSummary from RefSeq, UniProt

Enables alpha-tubulin binding activity; beta-tubulin binding activity; and tubulin-glutamic acid ligase activity. Involved in protein polyglutamylation. Predicted to be located in 9+0 non-motile cilium. Predicted to be active in ciliary basal body. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.43

LOEUF

Multiple*

Mechanism· predicted