Guinea Pig Coiled-coil and C2 domain-containing protein 2A (CC2D2A) ELISA Kit | CC2D2A elisa kit
Guinea pig Coiled-coil and C2 domain-containing protein 2A (CC2D2A) ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
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 Description
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
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Product Notes
The Guinea Pig CC2D2A cc2d2a (Catalog #AAA7210677) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA7210677 ELISA Kit recognizes Guinea Pig CC2D2A. It is sometimes possible for the material contained within the vial of "Coiled-coil and C2 domain-containing protein 2A (CC2D2A), ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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