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  • Molecular assay reagents intended to identify mutations in the Alstrom syndrome 1 (ALMS1) gene, located at chromosome 2p13, which encodes for a protein of unknown function that has been shown to localize to the centrosomes and the basal bodies of cilia and may play a role in hearing, sight, obesity, and function of the heart, kidney and liver; it might also affect the pancreatic regulation of insulin. Mutations at this locus have been identified in patients with Alstrom syndrome.
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