KEGG   VARIANT: 80206v1
Entry
80206v1                      Variant                               
Name
FHOD3 mutation
Type
Loss of function
Gene
FHOD3  formin homology 2 domain containing 3 [KO:K23939]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 609691
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00292  Hypertrophic cardiomyopathy
Reference
PMID:23213483
  Authors
Kan-O M, Takeya R, Abe T, Kitajima N, Nishida M, Tominaga R, Kurose H, Sumimoto H
  Title
Mammalian formin Fhod3 plays an essential role in cardiogenesis by organizing myofibrillogenesis.
  Journal
Biol Open 1:889-96 (2012)
DOI:10.1242/bio.20121370
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