KEGG   VARIANT: 81v1
Entry
81v1                      Variant                                  
Name
ACTN4 gain-of-function mutation
Type
Gain of function
Gene
ACTN4  actinin alpha 4 [KO:K05699]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604638
Network
nt06546  IgSF CAM signaling
Disease
H00626  Focal segmental glomerulosclerosis
Reference
PMID:10700177
  Authors
Kaplan JM, Kim SH, North KN, Rennke H, Correia LA, Tong HQ, Mathis BJ, Rodriguez-Perez JC, Allen PG, Beggs AH, Pollak MR
  Title
Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis.
  Journal
Nat Genet 24:251-6 (2000)
DOI:10.1038/73456
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