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 Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly and Cranioectodermal Dysplasia 1. Among its related pathways are Intraflagellar transport and Organelle biogenesis and maintenance. GO annotations related to this gene include protein C-terminus binding.
UniProtKB/Swiss-Prot for IFT52 Gene
Involved in ciliogenesis as 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 (PubMed:27466190). Required for the anterograde transport of IFT88 (PubMed:27466190).