Polyclonal Anti- Meckelin

For Research Use Only. Not for use in diagnostic procedures.

Chromosome: 4; NC_000070.6 (12039355..12087957, complement). Location: 4 A1; 4

Polyclonal

IgG

Rabbit

Immunogen affinity purified

Liquid

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

Small volumes of anti-Tmem67 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

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]

Western Blot (WB)

WB (1:500)

111,810 Da[Similar Products]

transmembrane protein 67

Meckelin; meckel syndrome type 3 protein homolog

Meckelin

Mks3??[Similar Products]

MKS3_MOUSE

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.

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.

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