Biology:Formin-2
Formin-2 (FMN2) is an actin binding structural protein and has a localized expression pattern in the developing and adult forms of the central nervous system (CNS).[1] FMN2 plays an important role in the nucleation and assembly of actin filaments. In humans, this gene is located on Chromosome 1.[2]
FMN2 plays a role in the ability of neurons to migrate and innervate target tissues.[3] FMN2 is present in the filopodial tips of neuronal growth cones and influences its pathfinding ability. In chicks FMN2 plays a role in migration of spinal commissural neurons.[4] FMN2 is reported to act like a clutch molecule generating traction to join the actin cytoskeleton to the growth cone.[5]
Biallelic mutations in this gene have been associated with Nonsyndromic Autosomal Recessive Intellectual Disability.[6]
FMN2 double knockout mice are seen to be normal in gross and microscopic morphology of the brain but show decreased fertility, improper positioning of the metaphase spindle and problems in the polar body formation during oogenesis.[6]
References
- ↑ "FMN2 - Formin-2 - Homo sapiens (Human) - FMN2 gene & protein" (in en). https://www.uniprot.org/uniprot/Q9NZ56.
- ↑ "HostDB". https://hostdb.org/hostdb/app/record/gene/ENSG00000155816.
- ↑ "Differential role of actin-binding proteins in controlling the adipogenic differentiation of human CD105-positive Wharton's Jelly cells". Biochimica et Biophysica Acta (BBA) - General Subjects 1820 (4): 469–481. April 2012. doi:10.1016/j.bbagen.2012.01.014. PMID 22330775.
- ↑ "Formin 2 regulates the stabilization of filopodial tip adhesions in growth cones and affects neuronal outgrowth and pathfinding in vivo". Development 143 (3): 449–460. February 2016. doi:10.1242/dev.130104. PMID 26718007.
- ↑ "Fmn2 Regulates Growth Cone Motility by Mediating a Molecular Clutch to Generate Traction Forces". Neuroscience 448: 160–171. November 2020. doi:10.1016/j.neuroscience.2020.09.046. PMID 33002558.
- ↑ 6.0 6.1 "Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability". American Journal of Human Genetics 95 (6): 721–728. December 2014. doi:10.1016/j.ajhg.2014.10.016. PMID 25480035.
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