FLNs
filamins
Filamins are large actin-binding proteins that stabilize delicate three-dimensional actin webs and link them to cellular membranes. They integrate cellular architectural and signalling functions and are essential for fetal development and cell locomotion.
Members
| FLNA | FLNB | FLNC |
Pathology
FLNA germline mutations in
- periventricular heterotopia (MIM.300049) with or without frontometaphyseal dysplasia (MIM.304120)
- otopalatodigital syndrome type I (OPD1) (MIM.311300)
- frontometaphyseal dysplasia (FMD) (MIM.304120)
- Melnick-Needles syndrome (MNS) (MIM.309350)
FLNB germline mutations in
- spondylocarpotarsal syndrome (SCT) (MIM.272460)
- autosomal dominant Larsen syndrome (MIM.150250)
- atelosteogenesis type I (AOI) (MIM.108720)
References
Robertson SP. Molecular pathology of filamin A: diverse phenotypes, many functions. Clin Dysmorphol. 2004 Jul;13(3):123-31. PMID: 15194946
Stossel TP, Condeelis J, Cooley L, Hartwig JH, Noegel A, Schleicher M, Shapiro SS. Filamins as integrators of cell mechanics and signalling. Nat Rev Mol Cell Biol. 2001 Feb;2(2):138-45. PMID: 11252955