TCTN1 tectonic family member 1

Gene ID: 79600, updated on 10-Dec-2024
Gene type: protein coding
Also known as: TECT1; JBTS13

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Joubert syndrome 13 MedGen: C3280031OMIM: 614173GeneReviews: Joubert Syndrome	See labs

Genomic context

Location:: 12q24.11

Sequence:: Chromosome: 12; NC_000012.12 (110614129..110649430)

Total number of exons:: 19

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for TCTN1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
TCTN1 @ LOVD
Variation Viewer
Related Variants

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