DISEASES

Disease-gene associations mined from literature

Literature associating ALMS1 and Bardet-Biedl syndrome 16

ALMS1 [ENSP00000482968]

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 ...

Linkouts:  STRING  Pharos  UniProt