Product Name
Meckelin (TMEM67), Polyclonal Antibody
Full Product Name
Meckelin Antibody
Product Gene Name
anti-TMEM67 antibody
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Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
3D Structure
ModBase 3D Structure for Q5HYA8
Species Reactivity
Human, Mouse
Specificity
This antibody is produced by immunizing rabbits with a synthetic peptide (KLH-coupled) corresponding to the residues of Meckelin.
Purity/Purification
Affinity purified
Form/Format
1*TBS (pH7.4), 0.5%BSA, 25% Glycerol.
Preservative
0.05% Sodium Azide.
Cellular Localization
Cell Membrane
Positive Control
Mouse Spinal Cord
Preparation and Storage
Store at +4 degree C after thawing. Aliquot store at-20 degree C or-80 degree C. Avoid repeated freeze/thaw cycles.
Other Notes
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.
Related Product Information for
anti-TMEM67 antibody
Meckelin, also known as Transmembrane protein 67(TMEM67), is a 995 amino acid multi-pass membrane protein. It is widely expressed in ***** 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.
Applications Tested/Suitable for anti-TMEM67 antibody
Western Blot (WB)
Application Notes for anti-TMEM67 antibody
WB: 1:500
Western Blot of anti-TMEM67 antibody
Western blot analysis on mouse spinal cord.
NCBI/Uniprot data below describe general gene information for TMEM67. It may not necessarily be applicable to this product.
NCBI Accession #
NP_001135773.1
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NCBI GenBank Nucleotide #
NM_001142301.1
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UniProt Primary Accession #
Q5HYA8
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UniProt Secondary Accession #
Q3ZCX3; Q7Z5T8; Q8IZ06; B3KRU5; B3KT47; G5E9H2[Other Products]
UniProt Related Accession #
Q5HYA8[Other Products]
Molecular Weight
112kDa[Similar Products]
NCBI Official Full Name
meckelin isoform 2
NCBI Official Synonym Full Names
transmembrane protein 67
NCBI Official Symbol
TMEM67??[Similar Products]
NCBI Official Synonym Symbols
MKS3; JBTS6; NPHP11; TNEM67; MECKELIN
??[Similar Products]
NCBI Protein Information
meckelin
UniProt Protein Name
Meckelin
UniProt Synonym Protein Names
Meckel syndrome type 3 protein; Transmembrane protein 67
UniProt Gene Name
TMEM67??[Similar Products]
UniProt Synonym Gene Names
MKS3??[Similar Products]
NCBI Summary for TMEM67
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. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6). [provided by RefSeq, Nov 2008]
UniProt Comments for TMEM67
Required for ciliary structure and 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. Involved in the regulation of cilia length and appropriate number through the control of centrosome duplication. Required for cell branching morphology. Essential for endoplasmic reticulum-associated degradation (ERAD) of surfactant protein C (SFTPC).
Product References and Citations for anti-TMEM67 antibody
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).
Research Articles on TMEM67
1. The authors results suggest that Asn242Ser in TMEM67 is a founder mutation in the Iranian population, which might explain a significant proportion of JS cases from eastern Iran.
Precautions
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