Gene Symbol | TCTN2 |
Entrez Gene ID | 79867 |
Full Name | tectonic family member 2 |
Synonyms | C12orf38,JBTS24,MKS8,TECT2 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a type I membrane protein that belongs to the tectonic family. Studies in mice suggest that this protein may be involved in hedgehog signaling, and essential for ciliogenesis. Mutations in this gene are associated with Meckel syndrome type 8. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. |
Disorder MIM: | |
Disorder Html: | ?Meckel syndrome 8, 613885 (3); Joubert syndrome 24, 616654 (3) |