TCTN1

Chr 12AR

tectonic family member 1

Also known as: JBTS13, TECT1

NCBI Gene: 79600 ENSG00000204852 UniProt: Q2MV58 OMIM: 609863

The protein is a component of the tectonic-like complex that localizes to the transition zone of primary cilia and acts as a barrier preventing diffusion of transmembrane proteins between cilia and plasma membranes, while also regulating Hedgehog signaling required for neural tube patterning. Mutations cause Joubert syndrome 13, a ciliopathy affecting the brain, kidneys, and other organ systems, inherited in an autosomal recessive pattern. The gene shows very high constraint against loss-of-function variants in the population.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of a family of secreted and transmembrane proteins. The orthologous gene in mouse functions downstream of smoothened and rab23 to modulate hedgehog signal transduction. This protein is a component of the tectonic-like complex, which forms a barrier between the ciliary axoneme and the basal body. A mutation in this gene was found in a family with Joubert syndrome-13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Joubert syndrome 13MIM #614173

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.23

LOEUF

LOF

Mechanism· G2P

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GeneReview available — TCTN1