CC2D2A, Polyclonal Antibody

C2D2A_HUMAN; CC2D2A; Coiled coil and C2 domain containing 2A; Coiled-coil and C2 domain-containing protein 2A; JBTS9; KIAA1345; MKS6

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

Polyclonal

IgG

Rabbit

CC2D2A Antibody detects endogenous levels of CC2D2A.

The antiserum was purified by peptide affinity chromatography using SulfoLink Coupling Resin (Thermo Fisher Scientific).

Liquid; Phosphate buffered saline, pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol.

1mg/ml (lot specific)

Store at -20 degree C. Stable for 12 months from date of receipt.

Manufactured in an ISO 9001:2015 Certified Laboratory.

Manufactured in a lab with traceable raw materials manufactured on site. Coordinated product portfolio of antibodies, pairs, conjugates, recombinant proteins, and immunoassay materials available, please inquire.

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.

Description: 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).

Subunit Structure: Part of the tectonic-like complex (also named B9 complex).

Western Blot (WB)

WB: 1:500-1:2000

Western blot analysis of extracts from A549 cells, using CC2D2A Antibody. The lane on the left was treated with blocking peptide.

Observed: 190 kDa
Predicted: 187 kDa

coiled-coil and C2 domain containing 2A

coiled-coil and C2 domain-containing protein 2A

Coiled-coil and C2 domain-containing protein 2A

KIAA1345  [Similar Products]

C2D2A_HUMAN

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]

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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