The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. Defects in this gene are a cause of Joubert syndrome (JBTS). [provided by RefSeq, May 2012].
Hong, Joo, Park, Seo, Kim, Shin, Cheong, Lee, Kim: "Extraciliary roles of the ciliopathy protein JBTS17 in mitosis and neurogenesis." in: Annals of neurology, Vol. 86, Issue 1, pp. 99-115, (2019) (PubMed).
Aliases for C5ORF42 抗体
chromosome 5 open reading frame 42 (C5orf42) 抗体 JBTS17 抗体