DFFA-like Apoptosefaktor C
Das Genprodukt des CIDEC-Gens steuert die Apoptose der Fettzellen. Mutationen sind für die autosomal rezessive partielle Lipodystrophie 5 verantwortlich.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
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
|
Update: 14. August 2020