Rabbit anti-Mouse Meckelin Polyclonal Antibody | anti-Tmem67 antibody

Anti-Meckelin antibody

Cat. Num. AAA355155

• Gene Names: Tmem67; B230117O07; b2b1163.1Clo; b2b1291.1Clo; 5330408M12Rik; RP23-203A12.5
• Reactivity: Mouse
• Applications: Western Blot
• Purity: Immunogen affinity purified
• Synonyms: Meckelin; Polyclonal Antibody; Anti-Meckelin antibody; Polyclonal Anti- Meckelin; anti-Tmem67 antibody

• Host: Rabbit
• Reactivity: Mouse
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: Immunogen affinity purified
• Form/Format: Liquid

• Applicable Applications for anti-Tmem67 antibody: Western Blot (WB)
• Application Notes: WB (1:500)
• Immunogen: A synthetic peptide (conjugated with KLH) corresponding to the region of Meckelin.
• Storage Buffer: In TBS (pH7.4), 0.5% BSA, 40% Glycerol and 0.05% Sodium Azide.
• Storage Buffer: In TBS (pH7.4), 0.5% BSA, 40% Glycerol and 0.05% Sodium Azide.
• Preparation and Storage: Store at 4 degree C after thawing (1 week). Aliquot and store at -20 degree C for long term (at least one year). Avoid repeated freeze and thaw cycles

Western Blot (WB)

Related Product Information for anti-Tmem67 antibody

Meckelin, also called Transmembrane protein 67 (TMEM67), which encoded by the TMEM67 gene, [1] is a 995-amino acid protein, localizes to the primary cilium and to the plasma membrane. Using in situ hybridization with human embryos, Dawe et al. (2007) found that meckelin was expressed in kidney, liver, retina, hindbrain, developing sphenoid bone, and the brain midline. [2] The lack of this protein will cause Meckel syndrome type 3 (MKS3)[3], nephronophthisis[4] and Joubert syndrome type 6 (JBTS6).[5]

References

1. Morgan NV, Gissen P, Sharif SM, Baumber L, Sutherland J, Kelly DA, Aminu K, Bennett CP, Woods CG, Mueller RF, Trembath RC, Maher ER, Johnson CA (Oct 2002). "A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24". Hum Genet 111 (4-5): 456-61. 2. Dawe, H. R., Smith, U. M., Cullinane, A. R., Gerrelli, D., Cox, P., Badano, J. L., Blair-Reid, S., Sriram, N., Katsanis, N., Attie-Bitach, T., Afford, S. C., Copp, A. J., Kelly, D. A., Gull, K., Johnson, C. A. The Meckel-Gruber syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Hum. Molec. Genet. 16: 173-186, 2007. 3. Smith UM, Consugar M, Tee LJ, McKee BM, Maina EN, Whelan S, Morgan NV, Goranson E, Gissen P, Lilliquist S, Aligianis IA, Ward CJ, Pasha S, Punyashthiti R, Malik Sharif S, Batman PA, Bennett CP, Woods CG, McKeown C, Bucourt M, Miller CA, Cox P, Algazali L, Trembath RC, Torres VE, Attie-Bitach T, Kelly DA, Maher ER, Gattone VH 2nd, Harris PC, Johnson CA (Jan 2006). "The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat". Nat Genet 38 (2): 191-6. 4. Boichis H, Passwell J, David R, Miller H (January 1973). "Congenital hepatic fibrosis and nephronophthisis. A family study". Q. J. Med. 42 (165): 221-33. 5. Otto EA, Tory K, Attanasio M, Zhou W, Chaki M, Paruchuri Y, Wise EL, Wolf MT, Utsch B, Becker C, Nürnberg G, Nürnberg P, Nayir A, Saunier S, Antignac C, Hildebrandt F (October 2009). "Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)". J. Med. Genet. 46 (10): 663-70.

NCBI and Uniprot Product Information

• NCBI GI #: 240255631
• NCBI GeneID: 329795
• NCBI Accession #: NP_808529.2
• NCBI GenBank Nucleotide #: NM_177861.4
• UniProt Accession #: Q8BR76; Q78U07
• Molecular Weight: 111,810 Da
• NCBI Official Full Name: Meckelin
• NCBI Official Synonym Full Names: transmembrane protein 67
• NCBI Official Symbol: Tmem67
• NCBI Official Synonym Symbols: B230117O07; b2b1163.1Clo; b2b1291.1Clo; 5330408M12Rik; RP23-203A12.5
• NCBI Protein Information: Meckelin; meckel syndrome type 3 protein homolog
• UniProt Protein Name: Meckelin
• Protein Family: Meckelin
• UniProt Gene Name: Tmem67
• UniProt Synonym Gene Names: Mks3
• UniProt Entry Name: MKS3_MOUSE

Uniprot Description

Function: Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition. Involved in centrosome migration to the apical cell surface during early ciliogenesis. Required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication. Required for cell branching morphology. Essential for endoplasmic reticulum-associated degradation (ERAD) of surfactant protein C (sftpc). Ref.2 Ref.4 Ref.5

Subunit structure: Interacts with DNAJB9, DNAJC10 and mutated SFTPC

By similarity. Interacts with SYNE2 during the early establishment of cell polarity

By similarity. Part of the tectonic-like complex (also named B9 complex). Interacts (via C-terminus) with FLNA

By similarity. Ref.5

Subcellular location: Cell membrane; Multi-pass membrane protein

Potential. Endoplasmic reticulum membrane; Multi-pass membrane protein. Cytoplasm › cytoskeleton › cilium basal body. Note: Localizes at the transition zone, a region between the basal body and the ciliary axoneme. Ref.3 Ref.5

Disruption phenotype: Mice survive to birth with no overt morphological abnormalitites. However, these mice died soon after birth. Ref.5

Sequence caution: The sequence BAC31378.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.The sequence BAC32362.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.