This entry represents FAM149 proteins, including FAM149A and FAM149B1 from humans. Mutations of the FAM149B1 gene cause Joubert syndrome 36, which a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. FAM149B1 is involved in the localization of proteins to the cilium and cilium assembly [].
