2025年3月30日 · TMEM67 (Transmembrane Protein 67) is a Protein Coding gene. Diseases associated with TMEM67 include Rhyns Syndrome and Coach Syndrome 1. Among its related pathways are Organelle biogenesis and maintenance and Bardet-Biedl syndrome. Gene Ontology (GO) annotations related to this gene include unfolded protein binding and filamin binding.

Meckelin is a protein that in humans is encoded by the TMEM67 gene. [5][6][7] 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.

2022年12月25日 · In humans, transmembrane protein 67 (TMEM67), a component of the multiprotein complex functioning as a gatekeeper at the transition zone (TZ) of primary cilia, is mutated in patients suffering from cilia-related pleiotropic diseases, collectively referred to …

Positional cloning of the Wpk gene suggested an MKS3 candidate gene, TMEM67 (transmembrane protein-67). The human TMEM67 gene encodes a deduced 995-amino acid protein, which the authors called meckelin, with a calculated unglycosylated mass of 108 kD. Human and rat meckelin share 84% identity.

该基因在中心粒向顶膜迁移和初级纤毛形成中发挥作用。 已发现该基因编码不同异构体的多个转录变体。 该基因的缺陷是导致 3 型 Meckel 综合征 (MKS3) 和 6 型 Joubert 综合征 (JBTS6) 的原因。 [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.

2025年2月8日 · TMEM67 is required for the gating function of the transition zone that controls entry of membrane-associated proteins ARL13B and INPP5E into primary cilia. Association of novel TMEM67 variants with mild phenotypes of high gamma-glutamyl transpeptidase cholestasis and congenital hepatic fibrosis.

3.3.5 Tmem67. MKS subtype 3 (MKS3) is caused by mutations in TMEM67, which encodes meckelin, an orphan transmembrane receptor found in the renal epithelium and the primary cilium (Smith et al., 2006).

TMEM67的详细信息，包括基因名称，代码，染色体位置，相互作用关系和通路，简述为由该基因编码的蛋白质定位于初级纤毛和至质膜。 在中心粒迁移基因功能的顶膜和形成初级纤毛的。 已发现该基因编码不同亚型的多个抄本变形。 这种基因缺陷是梅克尔综合征3型（MKS3）和茹贝尔辨证分型6（JBTS6）的原因。 [由RefSeq的，2008年11月提供]

2019年4月1日 · Here, we describe the cerebellar anatomical and signalling defects in the Tmem67 tm1(Dgen)/H knockout mouse. At mid-gestation, Tmem67 mutant cerebella were hypoplastic and had aberrantly high canonical Wnt/β-catenin signalling, proliferation and …

2019年4月1日 · Mutations in the TMEM67 gene are a major cause of human MKS and JBTS 14, 15, both presenting with severe cerebellar abnormalities. TMEM67 encodes the Frizzled-like Wnt receptor TMEM67 (also...