Protein Name | tectonic family member 1 |
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Organism | Homo sapiens |
Gene ID | 79600 |
Gene Symbol | TCTN1 |
UniProt | Q2MV58 (TECT1_HUMAN), B4DIB9 (B4DIB9_HUMAN), A8MW34 (A8MW34_HUMAN), Q05BR9 (Q05BR9_HUMAN) |
Relationships |
Total Number of functionally related compound(s) :
5
Total Number of Articles : 5 |
Description |
tectonic family member 1 |
Gene 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] |
synonyms |
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Properties | |