Inverted formin-2
Inverted formin 2, INF2, is involved in actin elongation and nucleation. Mutations of the gene are responsible for two autosomal dominant disorders: focal segmental glomerulosclerosis (FSGS) and Charcot-Marie-Tooth disease (CMT). In a variable degree both disorders can be present in one patient.
Genetests:
Related Diseases:
References:
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Boyer O et al. (2011) INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.
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Brown EJ et al. (2010) Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis.
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Bindschadler M et al. (2004) Formin' new ideas about actin filament generation.
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Higgs HN et al. (2005) Phylogenetic analysis of the formin homology 2 domain.
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Chhabra ES et al. (2006) INF2 Is a WASP homology 2 motif-containing formin that severs actin filaments and accelerates both polymerization and depolymerization.
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Orphanet article
Orphanet ID 225380
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NCBI article
NCBI 64423
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OMIM.ORG article
Omim 610982
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9. |
Wikipedia article
Wikipedia EN (INF2)
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Update: Aug. 14, 2020