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).
Immunogen Information
Immunogen
Recombinant fusion protein of human TMEM67
Gene ID
91147
Swissprot
Q5HYA8
Synonyms
TMEM67JBTS6MECKELINMKS3NPHP11TNEM67meckelin
Calculated MW
62kDa
Observed MW
70kDa
Applications
Reactivity
Mouse,Rat
Tested Applications
WB
Conjugation
Unconjugated
Dilution
WB 1:200-1:2000
Concentration
1mg/mL
Storage Buffer
PBS with 0.01% thiomersal,50% glycerol,pH7.3.
Storage Instructions
Store at -20°C Valid for 12 months. Avoid freeze / thaw cycles.
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