该基因编码的蛋白质定位于初生纤毛和质膜。该基因在中心粒向心尖膜的迁移和初生纤毛的形成中起作用已发现该基因编码不同亚型的多个转录变体。该基因缺陷是梅克尔综合征3型(MKS3)和Joubert综合征6型(JBTS6)的原因之一[由RefSeq提供,2008年11月]
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]

基因名:TMEM67
别名:MKS3,JBTS6,NPHP11,TNEM67,MECKELIN
基因ID:91147
Chromosome:
(GRCh37)
8 Start: 94767072 End: 94831462 Strand: 
信号通路:  
TMEM67 基因突变与药物

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