CAPNS1
Description
The CAPNS1 (calpain small subunit 1) is a protein-coding gene located on chromosome 19.
CAPNS1 (Calpain small subunit 1) is a protein encoded by the human CAPNS1 gene. Calpains are a widespread family of calcium-dependent proteases crucial for various cellular functions. They are activated by calcium influx and oxidative stress, potentially contributing to neurodegenerative diseases. Calpain I and II are heterodimers, each with a distinct large subunit and a shared small subunit, encoded by different genes, including CAPNS1. This small subunit contains an N-terminal domain rich in glycine residues and a C-terminal calcium-binding domain. Two transcript variants have been identified for this gene, both encoding the same protein. CAPNS1 has been linked to myotonic dystrophy and is associated with the progression of cancers like hepatocellular and renal carcinoma due to its elevated expression in these conditions.
CAPNS1 plays a crucial role in regulating the activity of calpains, a family of enzymes involved in breaking down proteins. Calpains are essential for various cellular processes, including cytoskeletal remodeling and signal transduction. CAPNS1's involvement in these processes highlights its importance in maintaining normal cellular function.
CAPNS1 is also known as CALPAIN4, CANP, CANPS, CAPN4, CDPS, CSS1, PPH6.
