CAPN6
Description
The CAPN6 (calpain 6) is a protein-coding gene located on chromosome X.
Calpain-6 (CAPN6), also known as calpamodulin, is a protein encoded by the CAPN6 gene in humans. Calpains are a widespread family of calcium-dependent, cysteine proteases involved in various cellular processes. CAPN6 is highly expressed in the placenta and lacks the typical calmodulin-like domain found in other calpains. Notably, it lacks a crucial catalytic triad residue in its active site, rendering it likely inactive. Despite this, CAPN6 is thought to play a role in tumor formation by inhibiting apoptosis and promoting angiogenesis.
CAPN6 is a microtubule-stabilizing protein that potentially regulates microtubule dynamics and cytoskeletal organization. It may also act as a regulator of RAC1 activity through interaction with ARHGEF2, controlling lamellipodial formation and cell mobility. However, it lacks protease activity due to the absence of active site residues.
CAPN6 is also known as CANPX, CAPNX, CalpM, DJ914P14.1.
Associated Diseases
- prostate cancer
- macroglossia
- cleft palate with or without ankyloglossia, X-linked
- ophthalmoplegia-intellectual disability-lingua scrotalis syndrome
- Duchenne muscular dystrophy
- cancer
- carcinosarcoma
