Aliases for IFT52 Gene
External Ids for IFT52 Gene
Previous HGNC Symbols for IFT52 Gene
Previous GeneCards Identifiers for IFT52 Gene
This gene encodes a conserved proline-rich protein that is a component of the intraflagellar transport-B (IFT-B) core complex. The encoded protein is essential for the integrity of the IFT-B core complex, and for biosynthesis and maintenance of cilia. Mutations in this gene are associated with ciliopathy that affects the skeleton. [provided by RefSeq, Oct 2016]
GeneCards Summary for IFT52 Gene
IFT52 (Intraflagellar Transport 52) is a Protein Coding gene. Diseases associated with IFT52 include Cranioectodermal Dysplasia 1 and Ciliopathy. Among its related pathways are Organelle biogenesis and maintenance and Signaling by GPCR. GO annotations related to this gene include protein C-terminus binding.
UniProtKB/Swiss-Prot for IFT52 Gene
Forms part of a complex involved in intraflagellar transport (IFT), the bi-directional movement of particles required for the assembly, maintenance and functioning of primary cilia.