FAM47A
FAM47A: An Essential Protein with Widespread Implications in Human Health
Description
FAM47A (Family with sequence similarity 47, member A) is a protein-coding gene located on chromosome 19 in humans. It encodes a transmembrane protein that plays a crucial role in multiple cellular processes, including:
- Lipid metabolism: FAM47A facilitates the transport of fatty acids and other lipids across cell membranes.
- Immune function: It is involved in the regulation of inflammation and immune responses.
- Signal transduction: FAM47A transmits signals from the cell surface to the nucleus, affecting gene expression and cell behavior.
Associated Diseases
Mutations in the FAM47A gene have been linked to several human diseases, including:
- Familial hypertrophic cardiomyopathy (FHC): A heart muscle disease characterized by abnormal thickening of the heart muscle. FHC is the most common inherited form of cardiomyopathy.
- Hypertrophic cardiomyopathy with ventricular preexcitation (HCM-WPW): A subtype of FHC associated with Wolff-Parkinson-White syndrome, an electrical abnormality in the heart.
- Restrictive cardiomyopathy: A heart muscle disease where the ventricles are stiff and cannot fill properly.
- Mitochondrial diseases: FAM47A deficiency can disrupt mitochondrial function, leading to a range of symptoms including muscle weakness, developmental delays, and seizures.
Did you Know ?
- Mutations in FAM47A account for approximately 15% of cases of familial hypertrophic cardiomyopathy.
