Product Name
CC2D2A, Polyclonal Antibody
Popular Item
Full Product Name
CC2D2A Antibody
Product Synonym Names
JBTS9; KIAA1345; MKS6
Product Gene Name
anti-CC2D2A antibody
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Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Purity/Purification
Antigen affinity purification
Immunogen
Peptide of CC2D2A
Calculated Molecular Weight: 186kd
Buffer
PBS with 0.02% sodium azide and 50% glycerol pH 7.3.
Preparation and Storage
Store at -20 degree C. Avoid freeze / thaw cycles
ISO Certification
Manufactured in an ISO 9001:2015 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.
Applications Tested/Suitable for anti-CC2D2A antibody
ELISA (EIA), Western Blot (WB), Immunohistochemistry (IHC), Immunofluorescence (IF)
Application Notes for anti-CC2D2A antibody
WB: 1:200-1:2000
IHC: 1:20-1:200
IF: 1:20-1:200
Testing Data of anti-CC2D2A antibody
NCBI/Uniprot data below describe general gene information for CC2D2A. It may not necessarily be applicable to this product.
NCBI Accession #
NP_001073991.2
[Other Products]
NCBI GenBank Nucleotide #
NM_001080522.2
[Other Products]
UniProt Secondary Accession #
Q3SYP3; Q9H8A7; A6ND97; B3FW08; D6RB72; E7EP21; E9PEV5[Other Products]
UniProt Related Accession #
Q9P2K1[Other Products]
Molecular Weight
12,607 Da
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
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]
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: smoothened signaling pathway; organelle organization and biogenesis; cilium biogenesis
Disease: Meckel Syndrome, Type 6; Coach Syndrome; Joubert Syndrome 9
Research Articles on CC2D2A
1. CC2D2A testing should be prioritised in patients with JS and ventriculomegaly and/or seizures. Patients with CC2D2A-related JS should be monitored for hydrocephalus and seizures.
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