CTNS Rabbit Polyclonal Antibody, 100ul Drug Development and Evaluation Mutations in this gene are

Mutations in this gene are associated with Griscelli syndrome type 2

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The protein encoded by this gene is a bifunctional

and interact with various ligands to influence cell growth

Functional analysis showed that this gene product has both ATPase and DNA helicase activities

CTNS Rabbit Polyclonal Antibody, 100ul Drug Development and Evaluation Mutations in this gene areThis gene encodes a seven transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis a lysosomal storage disorder. Alternative splicing results in multiple transcript variants.