antibody

CC2D2A Rabbit Polyclonal

MBS767569

0.1 mg

265 USD

polyclonal

rabbit

nonconjugated

human, mouse

western blot, ELISA, immunohistochemistry

Antibody

CC2D2A Rabbit Polyclonal

[CC2D2A]

[KIAA1345, CC2D2A, JBTS9,MKS6]

[coiled-coil and C2 domain-containing protein 2A isoform a; Coiled-coil and C2 domain-containing protein 2A; coiled-coil and C2 domain-containing protein 2A; coiled-coil and C2 domain containing 2A]

[CC2D2A]

[CC2D2A; CC2D2A; MKS6; JBTS9; KIAA1345]

C2D2A_HUMAN

Polyclonal

IgG

Rabbit

Human, Mouse

1620

Purity: >=95% as determined by SDS-PAGE. Purification: Immunogen Affinity Purified

Liquid

Store at -20°C for 24 months (Avoid repeated freeze / thaw cycles.)

ELISA, WB, IHC

WB: 1:500-1:1000. IHC: 1:20-1:200

Immunohistochemistry

Western Blot

Immunogen: Coiled-coil and C2 domain containing 2A. Buffer: PBS with 0.02% sodium azide and 50% glycerol pH 7.3

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).

197209974

NP_001073991.2

NM_001080522.2

Q9P2K1

190 kDa

Anchoring Of The Basal Body To The Plasma Membrane Pathway (1268847); Assembly Of The Primary Cilium Pathway (1268846); Organelle Biogenesis And Maintenance Pathway (1268838)

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

0.1 mg

265 USD