Reagents, Molecular Assay, Gene Anomaly, Mutation, ALMS1
Definition : 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.
Entry Terms : "Alstrom Syndrome Gene Mutation Detection Reagents" , "ALMS1 Gene Mutation Detection Reagents"
UMDC code : 24285