FLNC (Filamin C) is a large actin-binding protein that crosslinks actin filaments and connects them to cellular membranes. It is highly expressed in skeletal and cardiac muscle. Mutations in FLNC cause myofibrillar myopathy and are associated with familial dilated cardiomyopathy and rippling muscle disease. Recent studies have identified FLNC mutations in patients with ALS.
| Property | Value |
|---|---|
| Gene Symbol | FLNC |
| Gene Name | Filamin C |
| Chromosomal Location | 7q32.1 |
| NCBI Gene ID | 2318 |
| OMIM | 612121 |
| UniProt | Q14315 |
FLNC (Filamin C) is a large actin-binding protein that crosslinks actin filaments and connects them to cellular membranes. It is highly expressed in skeletal and cardiac muscle. Mutations in FLNC cause myofibrillar myopathy and are associated with familial dilated cardiomyopathy and rippling muscle disease. Recent studies have identified FLNC mutations in patients with ALS.
The FLNC gene is associated with the following neurodegenerative and related diseases:
FLNC expression and its relevance to brain function is under active investigation.