ADGRL1


ADGRL1: The Gene Linked to Heart, Liver, and Bone Diseases

Description

ADGRL1 is a protein-coding gene located on chromosome 11. It encodes the adhesion G protein-coupled receptor L1 (ADGRL1), which is expressed primarily in the heart, liver, and skeletal muscle. ADGRL1 plays a crucial role in cell-cell adhesion, regulating tissue development and function.

Associated Diseases

Mutations in the ADGRL1 gene have been linked to several diseases, including:

  • Cardiovascular diseases: ADGRL1 mutations can increase the risk of developing heart failure, arrhythmias, and sudden cardiac death.
  • Liver diseases: Mutations in ADGRL1 can lead to liver fibrosis, cirrhosis, and hepatocellular carcinoma (HCC).
  • Bone diseases: ADGRL1 mutations have been associated with osteoporosis and osteogenesis imperfecta (OI), a rare genetic disorder characterized by brittle bones.
  • Other diseases: ADGRL1 mutations have also been linked to autoimmune diseases, such as lupus and Sjogren‘s syndrome.

Did you Know ?

Studies have shown that approximately 1 in 100,000 people have a mutation in the ADGRL1 gene. This mutation increases their risk of developing cardiovascular diseases, especially in those with a family history of heart disease.



Disclaimer: The information provided here is not exhaustive by any means. Always consult your doctor or other qualified healthcare provider with any questions you may have regarding a medical condition, procedure, or treatment, whether it is a prescription medication, over-the-counter drug, vitamin, supplement, or herbal alternative.