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Center for Nephrology and Metabolic Disorders
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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:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

COACH syndrome
CC2D2A
RPGRIP1L
TMEM67
Joubert syndrome 09
CC2D2A
Meckel syndrome 06
CC2D2A

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.

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2.

Garcia-Gonzalo FR et al. (2011) A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.

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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.

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4.

Doherty D et al. (2010) Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).

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5.

Lee JE et al. (2012) CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.

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6.

Gorden NT et al. (2008) CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.

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7.

Noor A et al. (2008) CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.

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8.

Tallila J et al. (2008) Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle.

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9.

Orphanet article

Orphanet ID 159539 external link
10.

NCBI article

NCBI 57545 external link
11.

OMIM.ORG article

Omim 612013 external link
12.

Wikipedia article

Wikipedia EN (CC2D2A) external link
Update: Aug. 14, 2020
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