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E3 ubiquitin-protein ligase CBL

The CBL gene encodes a ubiquitin which is involved in degradation of proteins. It is known as a proto-oncogene. Mutations cause an autosomal dominant Noonan syndrome-like disorder and juvenile myelomonocytic leukemia.


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

Related Diseases:

Noonan syndrome-like disorder and juvenile myelomonocytic leukemia



Veiga E et al. (2005) Listeria hijacks the clathrin-dependent endocytic machinery to invade mammalian cells.

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Martin HC et al. (2014) Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.

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Rathinam C et al. (2010) c-Cbl deficiency leads to diminished lymphocyte development and functions in an age-dependent manner.

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Sanada M et al. (2009) Gain-of-function of mutated C-CBL tumour suppressor in myeloid neoplasms.

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Dragone LL et al. (2006) Src-like adaptor protein (SLAP) regulates B cell receptor levels in a c-Cbl-dependent manner.

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Molero JC et al. (2004) c-Cbl-deficient mice have reduced adiposity, higher energy expenditure, and improved peripheral insulin action.

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Nau MM et al. (2003) Comparative genomic organization of the cbl genes.

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Fu JF et al. (2003) Identification of CBL, a proto-oncogene at 11q23.3, as a novel MLL fusion partner in a patient with de novo acute myeloid leukemia.

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Naramura M et al. (2002) c-Cbl and Cbl-b regulate T cell responsiveness by promoting ligand-induced TCR down-modulation.

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Petrelli A et al. (2002) The endophilin-CIN85-Cbl complex mediates ligand-dependent downregulation of c-Met.

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Soubeyran P et al. (2002) Cbl-CIN85-endophilin complex mediates ligand-induced downregulation of EGF receptors.

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Thien CB et al. (2001) RING finger mutations that abolish c-Cbl-directed polyubiquitination and downregulation of the EGF receptor are insufficient for cell transformation.

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Baumann CA et al. (2000) CAP defines a second signalling pathway required for insulin-stimulated glucose transport.

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Joazeiro CA et al. (1999) The tyrosine kinase negative regulator c-Cbl as a RING-type, E2-dependent ubiquitin-protein ligase.

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Yoon CH et al. (1995) Similarity of sli-1, a regulator of vulval development in C. elegans, to the mammalian proto-oncogene c-cbl.

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Shen Y et al. (2000) InIB-dependent internalization of Listeria is mediated by the Met receptor tyrosine kinase.

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Loh ML et al. (2009) Mutations in CBL occur frequently in juvenile myelomonocytic leukemia.

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Muramatsu H et al. (2010) Mutations of an E3 ubiquitin ligase c-Cbl but not TET2 mutations are pathogenic in juvenile myelomonocytic leukemia.

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Pérez B et al. (2010) Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia.

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Pathak A et al. (2015) Juvenile myelomonocytic leukemia due to a germline CBL Y371C mutation: 35-year follow-up of a large family.

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Martinelli S et al. (2010) Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

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Niemeyer CM et al. (2010) Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.

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Savage PD et al. (1991) Relationship of the human protooncogene CBL2 on 11q23 to the t(4;11), t(11;22), and t(11;14) breakpoints.

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Wei S et al. (1990) Physical mapping of the human chromosome 11q23 region containing the ataxia-telangiectasia locus.

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Langdon WY et al. (1989) v-cbl, an oncogene from a dual-recombinant murine retrovirus that induces early B-lineage lymphomas.

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Mastick CC et al. (1995) Insulin stimulates the tyrosine phosphorylation of caveolin.

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Jones C et al. (1995) Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2.

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Jones C et al. (1994) Physical linkage of the fragile site FRA11B and a Jacobsen syndrome chromosome deletion breakpoint in 11q23.3.

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Orphanet article

Orphanet ID 242915 external link

NCBI article

NCBI 867 external link

OMIM.ORG article

Omim 165360 external link

Wikipedia article

Wikipedia EN (CBL_(gene)) external link
Update: Aug. 14, 2020
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