KEGG   VARIANT: 4645v1
Entry
4645v1                      Variant                                
Name
MYO5B mutation
Type
Loss of function
Gene
MYO5B  myosin VB [KO:K10357]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606540
Network
nt06541  Cytoskeleton in neurons
Disease
H00624  Progressive familial intrahepatic cholestasis
H01174  Congenital diarrhea
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
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