CIDEC Chromosome 3
Cell death inducing DFFA like effector c
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What This Gene Does
This gene encodes a member of the cell death-inducing DNA fragmentation factor-like effector family. Members of this family play important roles in apoptosis. The encoded protein promotes lipid droplet formation in adipocytes and may mediate adipocyte apoptosis. This gene is regulated by insulin and its expression is positively correlated with insulin sensitivity. Mutations in this gene may contribute to insulin resistant diabetes. A pseudogene of this gene is located on the short arm of chromosome 3. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
Associated Conditions (1)
CIDEC-related familial partial lipodystrophy
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS760803919 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS773671821 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS587776968 | Health Risk | Pathogenic | CIDEC-related familial partial lipodystrophy, CIDEC-related familial partial lipodystrophy |