TMEM67, Official Symbol TMEM67provided by HGNC Official Full Name transmembrane protein 67provided by HGNC Primary source HGNC:HGNC:28396 See related Ensembl:ENSG00000164953 MIM:609884; AllianceGenome:HGNC:28396 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MKS3; JBTS6; NPHP11; TNEM67; MECKELIN Summary 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] Expression Broad expression in testis (RPKM 4.7), thyroid (RPKM 3.1) and 23 other tissues See more Orthologs mouse all