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Search results 1 to 1 out of 1 for Armc9

Category restricted to ProteinDomain (x)

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Categories

Category: ProteinDomain
Type Details Score
Protein Domain
Type: Family
Description: Proteins in this family are mostly from animals. The only characterized protein is LisH domain-containing protein ARMC9, which is localized to the basal body of a cilium and is upregulated during ciliogenesis. Mutations in the ARMC9 gene cause Joubert Syndrome, a recessive neurodevelopmental disorder characterized by hypotonia, ataxia, abnormal eye movements, and variable cognitive impairment [].