LOC400958
Description
Loc400958 is a gene located on the long arm of chromosome 3 (3q26.31). It encodes a protein called fractalkine, which is involved in immune cell adhesion and migration. Fractalkine is expressed in a variety of cell types, including endothelial cells, macrophages, and dendritic cells.
Associated Diseases
Mutations in the LOC400958 gene have been linked to a number of diseases, including:
- Hypertrophic cardiomyopathy (HCM): HCM is a condition in which the heart muscle becomes thickened and enlarged. It can lead to heart failure and sudden cardiac death.
- Dilated cardiomyopathy (DCM): DCM is a condition in which the heart muscle becomes enlarged and weakened. It can lead to heart failure and death.
- Arrhythmogenic right ventricular cardiomyopathy (ARVC): ARVC is a condition in which the right ventricle of the heart becomes enlarged and weakened. It can lead to arrhythmias and sudden cardiac death.
- Sudden cardiac death (SCD): SCD is a condition in which a person dies suddenly from a cardiac event. It is often caused by an arrhythmia.
Did you Know ?
According to a study published in the journal Circulation, mutations in the LOC400958 gene are found in about 1% of people with HCM. This makes it one of the most common genetic causes of HCM.
