Anti-Meckelin, polyclonal antibody  (Rabbit)                  Catalog0903-7             

Product Description: Meckelin, also known as Transmembrane protein 67(TMEM67), is a 995 amino acid multi-pass membrane protein. It is widely expressed in adult and fetal tissues, expressed at higher level in spinal cord. Defects in TMEM67 are the cause of Meckel syndrome type 3 (MKS3). MKS3 is an autosomal recessive disorder characterized by a combination of renal cysts. Defects in TMEM67 are also the cause of Joubert syndrome type 6 (JBTS6). JBTS is an autosomal recessive disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay.

Species Cross-reactivity:  Human , Mouse , Rat

Formulation:   0.25 mg/ml

Application(s):    WB 1:500

Storage Buffer: 1*TBS (pH7.4), 0.5%BSA, 25%Glycerol. Preservative: 0.05% Sodium Azide.
 
Storage Instruction: Store at +4°C after thawing. Aliquot store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.
 
Purity: Immunogen affinity purified

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Fig1: Western blot analysis on mouse spinal cord.

 

References:
1. "The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat."Smith U.M., Consugar M., Tee L.J., McKee B.M., Maina E.N., Whelan S., Morgan N.V., Goranson E., Gissen P., Lilliquist S., Aligianis I.A., Ward C.J., Pasha S., Punyashthiti R., Malik Sharif S., Batman P.A., Bennett C.P., Woods C.G., McKeown C., Bucourt M., Miller C.A., Cox P., Algazali L., Trembath R.C., Torres V.E., Attie-Bitach T., Kelly D.A., Maher E.R., Gattone V.H., Harris P.C., Johnson C.A.Nat. Genet. 38:191-196(2006)
2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."The MGC Project TeamGenome Res. 14:2121-2127(2004)