The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene.
Source :
E.coli
Species :
Human
Tag :
GST
Protein length :
144-464a.a.
Storage :
The protein is stored in PBS buffer at -20℃. Avoid repeated freezing and thawing cycles.
Storage Buffer :
1M PBS (58mM Na2HPO4,17mM NaH2PO4, 68mM NaCl, pH8. ) added with 100mM GSH and 1% Triton X-100,15%glycerol.
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