Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Cell death-inducing DFFA-like effector C

The CIDEC gene encodes a protein that is involved in control of adipocyte apoptosis. Mutations cause autosomal recessive partial lipodystrophy 5.

Genetests:

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

Related Diseases:

Familial partial lipodystrophy type 5
CIDEC
Insulin resistance
CIDEC
Diabetes mellitus with insulin resistance and acanthosis nigricans
INSR
ENPP1
IRS1
IRS2
PPARG

References:

1.

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.

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2.

Puri V et al. (2007) Fat-specific protein 27, a novel lipid droplet protein that enhances triglyceride storage.

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3.

Keller P et al. (2008) Fat-specific protein 27 regulates storage of triacylglycerol.

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4.

Puri V et al. (2008) Cidea is associated with lipid droplets and insulin sensitivity in humans.

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5.

Nishino N et al. (2008) FSP27 contributes to efficient energy storage in murine white adipocytes by promoting the formation of unilocular lipid droplets.

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6.

Rubio-Cabezas O et al. (2009) Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC.

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Update: Sept. 26, 2018