Cullin 3
Das Genprodukt spiel eine wichtige Rolle bei der Polyubiquitinisierung von verschiedenen Proteinen. Mutationen, besonders solche, die das Spließverhalten von Exon 8 and 9 verändern sind bei einer Form des Pseudohypoaldosteronismus, dem Typ 2E, beschrieben.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Sumara I et al. (2007) A Cul3-based E3 ligase removes Aurora B from mitotic chromosomes, regulating mitotic progression and completion of cytokinesis in human cells.
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2. |
Rondou P et al. (2008) BTB Protein KLHL12 targets the dopamine D4 receptor for ubiquitination by a Cul3-based E3 ligase.
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3. |
Kigoshi Y et al. (2011) Ubiquitin ligase activity of Cul3-KLHL7 protein is attenuated by autosomal dominant retinitis pigmentosa causative mutation.
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4. |
Boyden LM et al. (2012) Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.
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5. |
Jin L et al. (2012) Ubiquitin-dependent regulation of COPII coat size and function.
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6. |
Kipreos ET et al. (1996) cul-1 is required for cell cycle exit in C. elegans and identifies a novel gene family.
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7. |
Michel JJ et al. (1998) Human CUL-1, but not other cullin family members, selectively interacts with SKP1 to form a complex with SKP2 and cyclin A.
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8. |
Du M et al. (1998) Cloning and expression analysis of a novel salicylate suppressible gene, Hs-CUL-3, a member of cullin/Cdc53 family.
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9. |
Ishikawa K et al. (1998) Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
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10. |
NCBI article
NCBI 8452
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11. |
OMIM.ORG article
Omim 603136
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12. |
Orphanet article
Orphanet ID 303805
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Update: 14. August 2020