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AMLS1

Alstrom syndrome 1 gene (ALMS1), encodes a novel protein that contains coiled-coil domains, and a putative nuclear localization signal, as well as serine-rich and histidine-rich regions.

ALMS1 forms a part of the centrosome which together with the data on BBS proteins, confirms the role of centrosomal proteins in the forms of CDK that are associated with diabetes, obesity and retinitis pigmentosa.

Pathology

- germline mutation in ALMS1 in Alstrom syndrome.