ID/Version |
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Sequence description from provider |
RecName: Full=Meckelin;AltName: Full=Meckel syndrome type 3 protein homolog;AltName: Full=Transmembrane protein 67;Flags: Precursor; | ||||||||||||||
Provider | SWISS-PROT | ||||||||||||||
Sequence |
Polypeptide
992
aa
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Source | |||||||||||||||
Annotated genes and markers |
Follow the symbol links to get more information on the GO terms,
expression assays, orthologs, phenotypic alleles, and other information
for the genes or markers below.
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Sequence references in MGI |
J:99680
The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563
J:144929 Cook SA, et al., A Mouse Model for Meckel Syndrome Type 3. J Am Soc Nephrol. 2009 Apr;20(4):753-64 J:151414 Tammachote R, et al., Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3. Hum Mol Genet. 2009 Sep 1;18(17):3311-23 J:159051 Wang M, et al., Meckel-Gruber syndrome protein MKS3 is required for endoplasmic reticulum-associated degradation of surfactant protein C. J Biol Chem. 2009 Nov 27;284(48):33377-83 J:159145 Dawe HR, et al., The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Hum Mol Genet. 2007 Jan 15;16(2):173-86 J:176174 Garcia-Gonzalo FR, et al., A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. Nat Genet. 2011 Aug;43(8):776-84 J:194966 Leightner AC, et al., The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity. Hum Mol Genet. 2013 May 15;22(10):2024-40 J:223384 Abdelhamed ZA, et al., The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway. Dis Model Mech. 2015 Jun;8(6):527-41 |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 08/21/2024 MGI 6.24 |
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