Aliases for LZTFL1 Gene
External Ids for LZTFL1 Gene
Previous GeneCards Identifiers for LZTFL1 Gene
This gene encodes a ubiquitously expressed protein that localizes to the cytoplasm. This protein interacts with Bardet-Biedl Syndrome (BBS) proteins and, through its interaction with BBS protein complexes, regulates protein trafficking to the ciliary membrane. Nonsense mutations in this gene cause a form of Bardet-Biedl Syndrome; a ciliopathy characterized in part by polydactyly, obesity, cognitive impairment, hypogonadism, and kidney failure. This gene may also function as a tumor suppressor; possibly by interacting with E-cadherin and the actin cytoskeleton and thereby regulating the transition of epithelial cells to mesenchymal cells. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2013]
GeneCards Summary for LZTFL1 Gene
LZTFL1 (Leucine Zipper Transcription Factor Like 1) is a Protein Coding gene. Diseases associated with LZTFL1 include Bardet-Biedl Syndrome 17 and Lztfl1- Related Bardet-Biedl Syndrome. Among its related pathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. GO annotations related to this gene include identical protein binding and protein complex binding.
UniProtKB/Swiss-Prot for LZTFL1 Gene
Regulates ciliary localization of the BBSome complex. Together with the BBSome complex, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. May play a role in neurite outgrowth. May have tumor suppressor function.