Description
Product Characteristics:
Defects in TCTN2 are the cause of Meckel syndrome type 8 (MKS8) [MIM:613885]. A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.
Subcellular location: Cytoplasm, Cell membrane
Synonyms: C12orf38, FLJ12975, MKS8, OTTHUMP00000239215, OTTHUMP00000239216, Tctn2, TECT2, TECT2_HUMAN, Tectonic family member 2, Tectonic-2.
Target Information: 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]