Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Cullin 3

The gene product plays a critical role in the polyubiquitination and subsequent degradation of specific protein substrates. Mutations especially thaose that alter splice behavior of exons 8 and 9 cause autosomal dominant type 2E pseudohypoaldosteronism.

Genetests:

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

Related Diseases:

Pseudohypoaldosteronism type 2
CUL3
KLHL3
WNK1
WNK4

References:

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 [^]
11.

OMIM.ORG article

Omim 603136 [^]
12.

Orphanet article

Orphanet ID 303805 [^]
13.

Wikipedia article

Wikipedia EN (CUL3) [^]
Update: April 29, 2019