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.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
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. |
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
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10. |
NCBI article
NCBI 57545
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11. |
OMIM.ORG article
Omim 612013
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Update: 14. August 2020