FAM27C
Title: FAM27C: A Multifaceted Gene with Implications in Health and Disease
Description:
FAM27C (Family with Sequence Similarity 27, Member C) is a highly conserved gene that plays a crucial role in various cellular processes. It encodes a protein involved in lipid metabolism, membrane trafficking, and cell signaling. FAM27C is widely expressed in different tissues, including the liver, brain, and kidneys.
Associated Diseases:
Mutations in the FAM27C gene have been linked to several human diseases:
- Ichthyosis: A skin disorder characterized by dry, scaly skin
- Intellectual disability: Impairment in cognitive abilities
- Neurological disorders: Including seizures, developmental delay, and microcephaly
- Liver disease: Fatty liver disease and non-alcoholic steatohepatitis
- Cardiovascular disease: Risk of developing atherosclerosis and heart attacks
Did you Know ?
Approximately 1 in 100,000 individuals worldwide may be affected by a FAM27C-related disorder.
