TTLL9

Chr 20

tubulin tyrosine ligase like 9

Also known as: C20orf125

NCBI Gene: 164395 ENSG00000131044 UniProt: Q3SXZ7 OMIM: 619838

The TTLL9 protein is a tubulin polyglutamylase that modifies tubulin by adding glutamate side chains, which is essential for establishing proper microtubule structure in sperm flagella and normal sperm motility. Mutations cause male infertility due to defective sperm flagella function, following an autosomal recessive inheritance pattern. This gene shows minimal constraint against loss-of-function variants, consistent with its specialized role in male reproductive function.

OMIM 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 act upstream of or within protein polyglutamylation. Predicted to be located in microtubule. Predicted to be active in ciliary basal body. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.28

LOEUF

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Mechanism