MyBioSource.com's meckelin isoform 1 antibody is a Rabbit Polyclonal antibody. This antibody has been shown to work in applications such as: Western Blot. The meckelin isoform 1 antibody was generated using TMEM67 as the antigen and it reacts with Human.
Description
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]