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Recommended positive controls: 293T, H1299, HeLa, HepG2, Raji.
Predicted reactivity: Mouse (82%), Rat (81%), Bovine (88%).
Store product as a concentrated solution. Centrifuge briefly prior to opening the vial.
The protein encoded by this gene localizes to the primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6).
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For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Meckel syndrome type 3 protein; Meckelin; Transmembrane protein 67
Gene Aliases: JBTS6; MECKELIN; MKS3; NPHP11; TMEM67; TNEM67
UniProt ID: (Human) Q5HYA8
Entrez Gene ID: (Human) 91147
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