TMEM67 抗原（重組蛋白）

Full name:

transmembrane protein 67

Synonyms:

MKS3; JBTS6; NPHP11; TNEM67; MECKELIN

Swissprot:

Q5HYA8

Gene Accession:

BC032835

Purity:

>85%, as determined by Coomassie blue stained SDS-PAGE

Expression system:

Escherichia coli

Tags:

His tag C-Terminus, GST tag N-Terminus

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).