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

CC2D2A encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation.

list all ELISA KIts 基因 基因ID UniProt
 CC2D2A CC2D2A 57545 Q9P2K1
小鼠 CC2D2A CC2D2A 231214 Q8CFW7
大鼠 CC2D2A CC2D2A 498386  
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Human Coiled-Coil and C2 Domain Containing 2A (CC2D2A) interaction partners

  1. Mutations in CC2D2A were the most common cause of an antenatal cystic kidney disease and a suspected ciliopathy in Saudi Arabian cohort.

  2. Using a dedicated bioinformatics algorithm for TE detection, we identified an exonic retrotransposon insertion of L1 to the CC2D2A locus in a patient with Meckel-Gruber syndrome, the most severe form of the ciliopathy phenotypes.

  3. 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.

  4. 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.

  5. 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.

  6. Mutations in MKS3 are responsible for the majority of COACH syndrome, with minor contributions from CC2D2A and RPGRIP1L (显示 RPGRIP1L ELISA试剂盒).

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

  8. 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.

  9. 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.

  10. CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290 (显示 CEP290 ELISA试剂盒).

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

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

  1. Results support participation of Rab8 (显示 RAB8A ELISA试剂盒) in OCV trafficking and identify a novel role for the TZ protein Cc2d2a in fusion of incoming ciliary-directed vesicles, through organization of the vesicle fusion machinery at the periciliary membrane.

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

CC2D2A 抗原简介

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) 抗体
  • coiled-coil and C2 domain containing 2A (Cc2d2a) 抗体
  • coiled-coil and C2 domain containing 2A L homeolog (cc2d2a.L) 抗体
  • coiled-coil and C2 domain containing 2A (cc2d2a) 抗体
  • 5730509K17Rik 抗体
  • b2b1035Clo 抗体
  • fc03c12 抗体
  • JBTS9 抗体
  • MKS6 抗体
  • RGD1561042 抗体
  • wu:fc03c12 抗体

Protein level used designations for CC2D2A

coiled-coil and C2 domain-containing protein 2A , coiled-coil and C2 domain containing 2A , sentinel , LOW QUALITY PROTEIN: coiled-coil and C2 domain-containing protein 2A

GENE ID SPECIES
57545 Homo sapiens
231214 Mus musculus
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
100734220 Cavia porcellus
101105915 Ovis aries
498386 Rattus norvegicus
100510970 Sus scrofa
479086 Canis lupus familiaris
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