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Coiled-Coil and C2 Domain Containing 2A (CC2D2A) ELISA Kits

CC2D2A encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Additionally we are shipping CC2D2A Antibodies (3) and and many more products for this protein.

list all ELISA KIts Gene Name GeneID UniProt
CC2D2A 57545 Q9P2K1
CC2D2A 231214 Q8CFW7
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Top CC2D2A ELISA Kits at antibodies-online.com

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Mouse
96 Tests Log in to see 11 to 13 Days
$785.71
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Chicken
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$999.43
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Dog
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$999.43
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Guinea Pig
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$999.43
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Monkey
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Rat
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$999.43
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Human
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$999.43
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Mouse
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More ELISA Kits for CC2D2A Interaction Partners

Zebrafish Coiled-Coil and C2 Domain Containing 2A (CC2D2A) interaction partners

  1. Cc2d2a, localized at the photoreceptor connecting cilium/transition zone, facilitates protein transport through a role in Rab8 (show RAB8A ELISA Kits)-dependent vesicle trafficking and fusion.

Human Coiled-Coil and C2 Domain Containing 2A (CC2D2A) interaction partners

  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.

  2. 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.

  3. Results suggest the involvement of CC2D1A and CC2D2A in mental retardation in the Han Chinese population, and some specific haplotypes may be susceptible or protective.

  4. Mutations in MKS3 (show TMEM67 ELISA Kits) are responsible for the majority of COACH syndrome, with minor contributions from CC2D2A and RPGRIP1L (show RPGRIP1L ELISA Kits).

  5. Mutations within the CC2D2A gene are associated with Meckel and Joubert syndromes.

  6. A homozygous splice-site mutation segregating in the family with autosomal-recessive mental retardation, within a coiled-coil and C2 domain-containing gene, CC2D2A was identified.

  7. CC2D2A appears to have at least two cilia-related functions: the molecule seems to be a part of the basal body complex where the cilium is assembled from and also seems to act as a sensor for the intracellular calcium.

  8. CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290 (show CEP290 ELISA Kits).

  9. CC2D2A causes autosomal-recessive mental retardation with retinitis pigmentosa.

Mouse (Murine) Coiled-Coil and C2 Domain Containing 2A (CC2D2A) interaction partners

  1. CC2D2A is essential for the assembly of subdistal appendages, which anchor cytoplasmic microtubules and prime the mother centriole for axoneme biogenesis

CC2D2A Antigen Profile

Antigen Summary

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.

Gene names and symbols associated with CC2D2A

  • coiled-coil and C2 domain containing 2A (CC2D2A) antibody
  • coiled-coil and C2 domain containing 2A (cc2d2a) antibody
  • coiled-coil and C2 domain containing 2A (Cc2d2a) antibody
  • coiled-coil and C2 domain containing 2B (Cc2d2b) antibody
  • 5730509K17Rik antibody
  • b2b1035Clo antibody
  • EG668310 antibody
  • fc03c12 antibody
  • Gm338 antibody
  • JBTS9 antibody
  • MKS6 antibody
  • wu:fc03c12 antibody

Protein level used designations for CC2D2A

coiled-coil and C2 domain containing 2A , sentinel , coiled-coil and C2 domain-containing protein 2A

GENE ID SPECIES
422830 Gallus gallus
446234 Xenopus laevis
471148 Pan troglodytes
517240 Bos taurus
570250 Danio rerio
722845 Macaca mulatta
779450 Xenopus (Silurana) tropicalis
100015780 Monodelphis domestica
100388890 Callithrix jacchus
100456809 Pongo abelii
100543518 Meleagris gallopavo
100604938 Nomascus leucogenys
57545 Homo sapiens
231214 Mus musculus
100734220 Cavia porcellus
101105915 Ovis aries
668310 Mus musculus
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