TTLL3

Chr 3

tubulin tyrosine ligase like 3

Also known as: HOTTL

Enables protein-glycine ligase activity. Predicted to be involved in axoneme assembly; flagellated sperm motility; and spermatogenesis. Predicted to be located in cilium. Predicted to be active in axoneme; microtubule cytoskeleton; and sperm flagellum. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
P/LP submissions
P/LP missense
1.23
LOEUF
GOF
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.23LOEUF
pLI 0.000
Z-score 0.49
OE 0.91 (0.681.23)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.06Z-score
OE missense 1.01 (0.941.08)
510 obs / 506.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.91 (0.681.23)
00.351.4
Missense OE?1.01 (0.941.08)
00.61.4
Synonymous OE?0.95
01.21.6
LoF obs/exp: 31 / 34.1Missense obs/exp: 510 / 506.4Syn Z: 0.59

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TTLL3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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