Full name: KIAA0586

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: JBTS23; SRTD14; Talpid3

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]

Expression: Broad expression in testis (RPKM 10.0), lymph node (RPKM 2.9) and 24 other tissues

Gene size: 134691bp

Exon count: 40