Recombinant Human Tectonic-3 (TCTN3), Truncated

Uniprot Id

Q6NUS6

Target Species

Human

Target Name

TCTN3

Target Full Name

Tectonic-3

Target Function

Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition. May be involved in apoptosis regulation. Necessary for signal transduction through the sonic hedgehog (Shh) signaling pathway.

Target Involvement

Orofaciodigital syndrome 4 (OFD4); Joubert syndrome 18 (JBTS18)

Target Subcellular Location

Membrane; Single-pass type I membrane protein.

Target Protein Families

Tectonic family

Target Synonyms

C10orf61; Chromosome 10 open reading frame 61; DKFZP564D116; JBTS18; OFD4; TCTN3; TECT3; TECT3_HUMAN; Tectonic 3; Tectonic 3 precursor; Tectonic family member 3; Tectonic-3

Target Background

This gene encodes a member of the tectonic gene family which functions in Hedgehog signal transduction and development of the neural tube. Mutations in this gene have been associated with Orofaciodigital Syndrome IV and Joubert Syndrom 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.