meckelin isoform 1 antibody

Catalog Number:

22668

Amount:

100μg

Price:

$319

Swiss-Prot No:

Swiss-Prot:Q5HYA8
Gene ID:91147

Form of Antibody:

Supplied in 0.1M Tris-buffered saline with 10% Glycerol (pH7.0). 0.01% Thimerosal was added as a preservative.

Storage/Stability:

Immunogen:

Recombinant protein fragment contain a sequence corresponding to a region within amino acids 231 and 480 of Human TMEM67

Purification:

Purified by antigen-affinity chromatography.

Specificity/Sensitivity:

Applications:

WB

Background:

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). [provided by RefSeq]

References:

appl_detail:

Predicted MW: 112kd
Western blotting: 1:500-1:3000

Datasheet PDF