KEGG   VARIANT: 4644v1
Entry
4644v1                      Variant                                
Name
MYO5A mutation
Type
Loss of function
Gene
MYO5A  myosin VA [KO:K10357]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 160777
Network
nt06541  Cytoskeleton in neurons
Disease
H02022  Griscelli syndrome
Reference
  Authors
Muller T, Hess MW, Schiefermeier N, Pfaller K, Ebner HL, Heinz-Erian P, Ponstingl H, Partsch J, Rollinghoff B, Kohler H, Berger T, Lenhartz H, Schlenck B, Houwen RJ, Taylor CJ, Zoller H, Lechner S, Goulet O, Utermann G, Ruemmele FM, Huber LA, Janecke AR
  Title
MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity.
  Journal
Nat Genet 40:1163-5 (2008)
DOI:10.1038/ng.225
Reference
  Authors
Van Gele M, Dynoodt P, Lambert J
  Title
Griscelli syndrome: a model system to study vesicular trafficking.
  Journal
Pigment Cell Melanoma Res 22:268-82 (2009)
DOI:10.1111/j.1755-148X.2009.00558.x
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