CST9L
Description of CST9L
CST9L (cystatin 9-like) is a protein encoded by the CST9L gene. It is a member of the cystatin superfamily, which are proteins that inhibit cysteine proteases. CST9L is expressed in various tissues, including the liver, kidney, and pancreas. It is involved in the regulation of cell growth and differentiation, as well as the immune response.
Associated Diseases
Mutations in the CST9L gene have been linked to several diseases, including:
- Amyloidosis is a condition in which abnormal proteins deposit in organs and tissues, leading to organ damage. CST9L mutations can cause a type of amyloidosis called hereditary ATTR (transthyretin) amyloidosis.
- Cardiomyopathy is a disease of the heart muscle that can lead to heart failure. CST9L mutations can cause a type of cardiomyopathy called familial amyloid cardiomyopathy.
- Neuropathy is a disease of the nerves that can cause weakness, numbness, and pain. CST9L mutations can cause a type of neuropathy called familial amyloid polyneuropathy.
- Renal failure is a condition in which the kidneys lose their ability to function properly. CST9L mutations can cause a type of renal failure called familial amyloid nephropathy.
Did you Know ?
Approximately 1 in 100,000 people worldwide have a CST9L mutation that is associated with an increased risk of developing amyloidosis or other related diseases.
