Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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CCAAT/Enhancer-binding protein

The gene encoding an important myeloid transcription factor is mutated in cells of acute myeloid leukemia (somatic mutation) and in patients with autosomal dominant familial acute myeloid leukemia (germline mutation).

Genetests:

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
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

References:

1.

Smith ML et al. (2004) Mutation of CEBPA in familial acute myeloid leukemia.

external link
2.

Barjesteh van Waalwijk van Doorn-Khosrovani S et al. (2003) Biallelic mutations in the CEBPA gene and low CEBPA expression levels as prognostic markers in intermediate-risk AML.

external link
3.

NCBI article

NCBI 1050 external link
4.

OMIM.ORG article

Omim 116897 external link
5.

Orphanet article

Orphanet ID 233165 external link
6.

Wikipedia article

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