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anti-CC2D2A antibody :: Rabbit CC2D2A Polyclonal Antibody

Scan QR to view Datasheet Catalog #    MBS767569
Unit / Price
0.1 mg  /  $265 +1 FREE 8GB USB
 
 Go to:   rightarrow  Product Names   rightarrow Product Info   rightarrow Accession #s   rightarrow Product Desc   rightarrow Diseases/Tissues/Pathways   rightarrow Applications   rightarrow References 
 Product Name   

CC2D2A, Polyclonal Antibody

★Popular Item★
 Also Known As   

CC2D2A Rabbit Polyclonal

 Product Synonym Names    KIAA1345, CC2D2A, JBTS9,MKS6
 Product Gene Name   

anti-CC2D2A antibody

[Similar Products]
 Research Use Only    For Research Use Only. Not for use in diagnostic procedures.
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 OMIM    216360
 3D Structure    ModBase 3D Structure for Q9P2K1
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 Clonality    Polyclonal
 Isotype    IgG
 Host    Rabbit
 Species Reactivity    Human, Mouse
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 Purity/Purification    Purity: >=95% as determined by SDS-PAGE
Purification: Immunogen Affinity Purified
 Form/Format    Liquid
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 Immunogen    Coiled-coil and C2 domain containing 2A
 Buffer    PBS with 0.02% sodium azide and 50% glycerol pH 7.3
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 Preparation and Storage    Store at -20C for 24 months (Avoid repeated freeze / thaw cycles.)
 ISO Certification    Manufactured in an ISO 9001:2008 Certified Laboratory.
 Other Notes    Small volumes of anti-CC2D2A 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.
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Related Product Information for anti-CC2D2A antibody

   Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity).
 Applications Tested/Suitable for anti-CC2D2A antibody   

ELISA, WB, IHC

 Application Notes for anti-CC2D2A antibody    WB: 1:500-1:1000
IHC: 1:20-1:200
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 Immunohistochemistry of anti-CC2D2A antibody    Immunohistochemistry of paraffin-embedded human lung cancer slide using MBS767569 ( CC2D2A Antibody) at dilution of 1:50
anti-CC2D2A antibody Immunohistochemistry (IHC) image
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 Western Blot of anti-CC2D2A antibody    HEK-293 cells were subjected to SDS PAGE followed by western blot with MBS767569 (CC2D2A antibody) at dilution of 1:500
anti-CC2D2A antibody Western Blot (WB) image
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NCBI/Uniprot data below describe general gene information for CC2D2A. It may not necessarily be applicable to this product.
 NCBI GI #    197209974
 NCBI GeneID    57545
 NCBI Accession #    NP_001073991.2 [Other Products]
 NCBI GenBank Nucleotide #    NM_001080522.2 [Other Products]
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 UniProt Primary Accession #    Q9P2K1 [Other Products]
 UniProt Secondary Accession #    Q3SYP3; Q9H8A7; A6ND97; B3FW08; D6RB72; E7EP21; E9PEV5 [Other Products]
 UniProt Related Accession #    Q9P2K1 [Other Products]
 Molecular Weight    190 kDa
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 NCBI Official Full Name    coiled-coil and C2 domain-containing protein 2A isoform a
 NCBI Official Synonym Full Names    coiled-coil and C2 domain containing 2A
 NCBI Official Symbol    CC2D2A [Similar Products]
 NCBI Official Synonym Symbols   
MKS6; JBTS9
[Similar Products]
 NCBI Protein Information    coiled-coil and C2 domain-containing protein 2A
 UniProt Protein Name    Coiled-coil and C2 domain-containing protein 2A
 Protein Family    Coiled-coil and C2 domain-containing protein
 UniProt Gene Name    CC2D2A [Similar Products]
 UniProt Synonym Gene Names    KIAA1345 [Similar Products]
 UniProt Entry Name    C2D2A_HUMAN
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 NCBI Summary for CC2D2A    This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
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 UniProt Comments for CC2D2A    CC2D2A: Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling. Defects in CC2D2A are the cause of Meckel syndrome type 6 (MKS6). MKS is an autosomal recessive disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. Defects in CC2D2A are the cause of Joubert syndrome type 9 (JBTS9). JBTS is an autosomal recessive disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Defects in CC2D2A are a cause of COACH syndrome (COACHS). It is a disorder characterized by mental retardation, ataxia due to cerebellar hypoplasia, and hepatic fibrosis. Patients present the molar tooth sign, a midbrain- hindbrain malformation pathognomonic for Joubert syndrome and related disorders. Other features, such as coloboma and renal cysts, may be variable. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Cytoskeletal

Chromosomal Location of Human Ortholog: 4p15.32

Cellular Component: cytoskeleton; cytosol

Biological Process: axoneme biogenesis; camera-type eye development; cilium biogenesis; determination of left/right symmetry; heart development; neural tube closure; sensory cilium biogenesis; smoothened signaling pathway

Disease: Coach Syndrome; Joubert Syndrome 9; Meckel Syndrome, Type 6
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 Research Articles on CC2D2A    1. these data support a model where CC2D2A associates with NINL to provide a docking point for cilia-directed cargo vesicles, suggesting a mechanism by which transition zone proteins can control the protein content of the ciliary compartment.
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 Precautions    All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
 Disclaimer    While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.

It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
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Pathways associated with anti-CC2D2A antibodyDiseases associated with anti-CC2D2A antibody
 Products by Pathway  Pathway Diagram
 Anchoring Of The Basal Body To The Plasma Membrane Pathway antibodies  Anchoring Of The Basal Body To The Plasma Membrane Pathway Diagram
 Assembly Of The Primary Cilium Pathway antibodies  Assembly Of The Primary Cilium Pathway Diagram
 Organelle Biogenesis And Maintenance Pathway antibodies  Organelle Biogenesis And Maintenance Pathway Diagram
 Disease Name  Pubmed Publications
 Nervous System Diseases Antibodies  >21 publications with CC2D2A and Nervous System Diseases
 Kidney Diseases Antibodies  >16 publications with CC2D2A and Kidney Diseases
 Abnormalities, Multiple Antibodies  >14 publications with CC2D2A and Abnormalities, Multiple
 Eye Abnormalities Antibodies  >13 publications with CC2D2A and Eye Abnormalities
 Fibrosis Antibodies  >6 publications with CC2D2A and Fibrosis
 Neurobehavioral Manifestations Antibodies  >5 publications with CC2D2A and Neurobehavioral Manifestations
 Cognition Disorders Antibodies  >2 publications with CC2D2A and Cognition Disorders
 Meckel Syndrome, Type 6 Antibodies  >2 publications with CC2D2A and Meckel Syndrome, Type 6
 Disease Models, Animal Antibodies  >1 publications with CC2D2A and Disease Models, Animal
 Learning Disorders Antibodies  >1 publications with CC2D2A and Learning Disorders
Organs/Tissues associated with anti-CC2D2A antibody
 Organ/Tissue Name  Pubmed Publications
 Kidney Antibodies  >20 publications with CC2D2A and Kidney
 Eye Antibodies  >16 publications with CC2D2A and Eye
 Brain Antibodies  >13 publications with CC2D2A and Brain
 Liver Antibodies  >7 publications with CC2D2A and Liver
 Heart Antibodies  >3 publications with CC2D2A and Heart
 Bone Antibodies  >2 publications with CC2D2A and Bone
 Embryonic Tissue Antibodies  >2 publications with CC2D2A and Embryonic Tissue
 Muscle Antibodies  >1 publications with CC2D2A and Muscle
 Connective Tissue Antibodies  >1 publications with CC2D2A and Connective Tissue
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