Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Coiled-coil- und C2-Domain-Protein 2A

Das CC2D2A-Gen kodiert ein Calcium bindendes Protein welches eine wichtige Rolle bei der Zilienentwicklung spielt. Mutationen führen zu verschiedenen autosomal rezessiven Erkrankungen wie Meckel-Syndrom 6, Joubert-Syndrom 9 und COACH-Syndrom.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

COACH-Syndrom
CC2D2A
RPGRIP1L
TMEM67
Joubert-Syndrom 9
CC2D2A
Meckel-Syndrom 6
CC2D2A

Referenzen:

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.

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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3.

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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4.

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

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5.

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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6.

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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7.

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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8.

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

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