Literature associating ALMS1 and Joubert syndrome 3
Alstrom syndrome protein 1; Involved in PCM1-dependent intracellular transport. Required, directly or indirectly, for the localization of NCAPD2 to the proximal ends of centrioles. Required for proper formation and/or maintenance of primary cilia (PC), microtubule-based structures that protrude from the surface of epithelial cells.
Synonyms: ALMS1, ALMS1p, hALMS1, A6NMY3, B8ZZJ3 ...