Alstrom Syndrome Protein 1 (ALMS1)

Alstrom syndrome protein 1 (ALMS1) is a large centrosome/basal body-associated protein encoded by the ALMS1 gene on chromosome 2p13. It plays key roles likely related to microtubule organization during cell division and intracellular trafficking—including receptor recycling—and may be critical for normal ciliary structure/function across multiple organ systems. Loss-of-function mutations lead directly or indirectly to multisystem disease manifestations seen in Alström syndrome—including obesity/type II diabetes/blindness/hearing loss/fibrosis—with emerging evidence supporting its relevance as a therapeutic target beyond rare genetic disease contexts.

Other names

Alström syndrome 1 protein