Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

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

Krankheiten:

Pseudohypoaldosteronismus Type 2
CUL3
KLHL3
WNK1
WNK4

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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