Gene Symbol | KIAA0586 |
Entrez Gene ID | 9786 |
Full Name | KIAA0586 |
Synonyms | JBTS23,SRTD14,Talpid3 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a conserved centrosomal protein that functions in ciliogenesis and responds to hedgehog signaling. Mutations in this gene causes Joubert syndrome 23. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Aug 2016]. |
Disorder MIM: | |
Disorder Html: | Joubert syndrome 23, 616490 (3); Short-rib thoracic dysplasia 14 with polydactyly, 616546 (3) |