FMNL3
Description
The FMNL3 (formin like 3) is a protein-coding gene located on chromosome 12.
FMNL3, also known as WW domain-binding protein 3 (WBP-3), is a protein encoded by the FMNL3 gene in humans. It contains a formin homology 2 domain and shares high sequence similarity with the mouse Wbp3 protein. Two alternative transcripts encoding different isoforms have been identified. The C-terminus of FMNL3 accelerates actin polymerization through its WH2-like motif. FMNL3 has been crystallized in complex with actin, providing insights into the mechanism of formin-mediated actin nucleation.
FMNL3 is involved in regulating cell morphology and cytoskeletal organization, playing a crucial role in controlling cell shape and migration. It is required for developmental angiogenesis, contributing to microtubule reorganization and efficient endothelial cell elongation during this process. In quiescent endothelial cells, FMNL3 triggers rearrangement of the actin cytoskeleton without affecting microtubule alignment. These functions are supported by experimental evidence from UniProtKB:Q6NXC0, PubMed:21834987, and PubMed:22275430.
FMNL3 is also known as FHOD3, FRL2, WBP-3, WBP3.
Associated Diseases
- substance abuse
- acroleukopathy, symmetric
- familial generalized lentiginosis
- linear atrophoderma of Moulin
- Dowling-Degos disease 1
- familial progressive hyperpigmentation