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Please note: We are reviewing Western blot images included in the antibody testing data in our catalog, including those provided by third parties. Unless expressly labeled or annotated as “raw-unedited”, Western blot images included in the antibody testing data in our catalog may have been edited, optimized or otherwise adjusted for presentation.
Antibody detects endogenous levels of total MKS3.
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).
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: meckel syndrome type 3 protein; meckel syndrome type 3 protein homolog; unnamed protein product
Gene Aliases: 5330408M12Rik; B230117O07; b2b1163.1Clo; b2b1291.1Clo; JBTS6; MECKELIN; MKS3; NPHP11; TNEM67
UniProt ID: (Human) Q5HYA8, (Mouse) Q8BR76
Entrez Gene ID: (Human) 91147, (Mouse) 329795
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