基因名:
TMEM67
产品别名:
JBTS6; MECKELIN; MKS3; NPHP11; TNEM67; TMEM67; transmembrane protein 67; transmembrane protein 67; meckelin; meckel syndrome type 3 protein; 跨膜蛋白67;
背景信息:
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, Nov 2008]