Gene Symbol | IFT52 |
Entrez Gene ID | 51098 |
Full Name | intraflagellar transport 52 |
Synonyms | C20orf9,CGI-53,NGD2,NGD5 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Short-rib thoracic dysplasia 16 with or without polydactyly, 617102 (3) |