| Primary Identifier | IPR028781 | Type | Family |
| Short Name | ALMS1 |
| description | Alstrom syndrome is a rare autosomal recessive disorder characterised by progressive cone-rod retinal dystrophy, neurosensory hearing loss, early childhood obesity and diabetes mellitus type 2 []. Centrosome-associated protein ALMS1 is implicated in ciliary function, cell cycle control, and intracellular transport. It interacts with alpha-actinin and components of the endosomal recycling pathway []. In cochlear hair cells, it localises to basal bodies and regulates cilium-dependent planar cell polarity []. It may also have centrosomal functions []. |
