ALMS1: Proteins and Enzymes

Mutations in the ALMS1 gene are the cause of Alstrom syndrome, a rare autosomal recessive disease characterized by type 2 diabetes mellitus, obesity, cardiomyopathy, and neurosensory defects such as cone-rod retinal dystrophy, and hearing loss. In the cell, ALMS1 localizes to basal bodies of ciliated cells and centrosomes and is thus a member of proteins associated with genetic ciliopathies. ALMS1 is also known as KIAA0328 and ALSS.