Coiled-coil and C2 domain-containing protein 2A
The CC2D2A gene encodes a calcium binding protein that is involved in cilia development. Mutations cause various autosomal recessive disorders such as Meckel syndrome type 6, Joubert syndrome type 9, and COACH syndrome.
Genetests:
Related Diseases:
References:
1. |
Nagase T et al. (2000) Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro.
|
2. |
Garcia-Gonzalo FR et al. (2011) A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.
|
3. |
Williams CL et al. (2011) MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis.
|
4. |
Doherty D et al. (2010) Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
|
5. |
Lee JE et al. (2012) CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
|
6. |
Gorden NT et al. (2008) CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
|
7. |
Noor A et al. (2008) CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.
|
8. |
Tallila J et al. (2008) Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle.
|
9. |
Orphanet article
Orphanet ID 159539
|
10. |
NCBI article
NCBI 57545
|
11. |
OMIM.ORG article
Omim 612013
|
12. |
Wikipedia article
Wikipedia EN (CC2D2A)
|
Update: Aug. 14, 2020