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CC2D2A encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation.
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Mutations in CC2D2A were the most common cause of an antenatal cystic kidney disease and a suspected ciliopathy in Saudi Arabian cohort.
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.
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.
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.
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.
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).
Mutations within the CC2D2A gene are associated with Meckel and Joubert syndromes.
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.
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.
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290 (显示 CEP290 ELISA试剂盒).
CC2D2A is essential for the assembly of subdistal appendages, which anchor cytoplasmic microtubules and prime the mother centriole for axoneme biogenesis
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.
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.
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.
coiled-coil and C2 domain-containing protein 2A
, coiled-coil and C2 domain containing 2A
, LOW QUALITY PROTEIN: coiled-coil and C2 domain-containing protein 2A