CIDEC Chromosome 3

Cell death inducing DFFA like effector c
3 variants 3 Health Risk

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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
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