Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The CIDEC gene encodes a protein that is involved in control of adipocyte apoptosis. Mutations cause autosomal recessive partial lipodystrophy 5.
| 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 |
Insulin resistance
|
||||
|
CIDEC
|
|||
|
Diabetes mellitus with insulin resistance and acanthosis nigricans
|
|||
|
|
INSR
|
||
|
|
ENPP1
|
|||
|
|
IRS1
|
|||
|
|
IRS2
|
|||
|
|
PPARG
|
|||
|
|
|
|
|
| 1. |
Nishino N et al. (2008) FSP27 contributes to efficient energy storage in murine white adipocytes by promoting the formation of unilocular lipid droplets. 
|
| 2. |
Rubio-Cabezas O et al. (2009) Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC.
|
| 3. |
Liang L et al. (2003) Molecular cloning and characterization of CIDE-3, a novel member of the cell-death-inducing DNA-fragmentation-factor (DFF45)-like effector family.
|
| 4. |
Puri V et al. (2007) Fat-specific protein 27, a novel lipid droplet protein that enhances triglyceride storage.
|
| 5. |
Keller P et al. (2008) Fat-specific protein 27 regulates storage of triacylglycerol.
|
| 6. |
Puri V et al. (2008) Cidea is associated with lipid droplets and insulin sensitivity in humans.
|
| 7. |
Orphanet article Orphanet ID 444087
|
| 8. |
NCBI article NCBI 63924
|
| 9. |
OMIM.ORG article Omim 612120
|
 |
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944 Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits |