CIDEC

Chr 3AR

cell death inducing DFFA like effector c

Also known as: CIDE-3, CIDE3, FPLD5, FSP27

NCBI Gene: 63924 ENSG00000187288 UniProt: Q96AQ7 OMIM: 612120

The CIDEC protein is a lipid transferase expressed in white adipose tissue that promotes lipid droplet fusion and enlargement, restricting lipolysis and favoring lipid storage. Mutations cause familial partial lipodystrophy type 5, inherited in an autosomal recessive pattern. The gene shows low constraint to loss-of-function variation (pLI = 0.009, LOEUF = 0.943), consistent with recessive inheritance.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…