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Center for Nephrology and Metabolic Disorders
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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:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Hereditary FSGS type 5
INF2
Charcot-Marie-Tooth disease
INF2
X-linked Charcot-Marie-Tooth disease type 5
PRPS1

References:

1.

Boyer O et al. (2011) INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.

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2.

Brown EJ et al. (2010) Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis.

external link
3.

Bindschadler M et al. (2004) Formin' new ideas about actin filament generation.

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4.

Higgs HN et al. (2005) Phylogenetic analysis of the formin homology 2 domain.

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5.

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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6.

Orphanet article

Orphanet ID 225380 external link
7.

NCBI article

NCBI 64423 external link
8.

OMIM.ORG article

Omim 610982 external link
9.

Wikipedia article

Wikipedia EN (INF2) external link
Update: Aug. 14, 2020
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