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 [].
This domain is found at the C terminus of centrosome-associated protein ALMS1, centrosomal protein of 295 kDa (CEP295, also known as KIAA1731) and (E2-independent) E3 ubiquitin-conjugating enzyme FATS (also known as C10orf90) [, ]. These proteins play a role in centrosomal functions. ALMS1 is implicated in ciliary function, cell cycle control, and intracellular transport. It interacts with alpha-actinin and components of the endosomal recycling pathway []. CEP295 is a centriole-enriched microtubule-binding protein involved in centriole biogenesis, essential for the generation of the distal portion of newborn centrioles and recruitment of centriolar proteins, such as POC1B, POC5 and CEP135 [, ].Centrosome-associated protein Alms1a, the Drosophila homologue of centrosome-associated protein ALMS1, plays critical role in ensuring centrosome duplication in asymmetrically dividing germline stem cells (GSCs), which is essential for the production of centrosomes and centrioles in all downstream germ cells []. This domain directly interacts with Klp10, a microtubule-depolymerizing kinesin of kinesin-13 family, at GSC centrosome []. Alms1a might recruit SAK for daughter centriole duplication [].
