KEGG   VARIANT: 72v1
Entry
72v1                      Variant                                  
Name
ACTG2 mutation
Gene
ACTG2  actin gamma 2, smooth muscle [KO:K12315]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 102545
Network
nt06539  Cytoskeleton in muscle cells
Disease
H01869  Megacystis microcolon intestinal hypoperistalsis syndrome
H02553  Visceral myopathy
Reference
  Authors
Lehtonen HJ, Sipponen T, Tojkander S, Karikoski R, Jarvinen H, Laing NG, Lappalainen P, Aaltonen LA, Tuupanen S
  Title
Segregation of a missense variant in enteric smooth muscle actin gamma-2 with autosomal dominant familial visceral myopathy.
  Journal
Gastroenterology 143:1482-1491.e3 (2012)
DOI:10.1053/j.gastro.2012.08.045
Reference
  Authors
Halim D, Hofstra RM, Signorile L, Verdijk RM, van der Werf CS, Sribudiani Y, Brouwer RW, van IJcken WF, Dahl N, Verheij JB, Baumann C, Kerner J, van Bever Y, Galjart N, Wijnen RM, Tibboel D, Burns AJ, Muller F, Brooks AS, Alves MM
  Title
ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
  Journal
Hum Mol Genet 25:571-83 (2016)
DOI:10.1093/hmg/ddv497
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