KEGG   VARIANT: 130340v1
Entry
130340v1                      Variant                              
Name
AP1S3 mutation
Type
Loss of function
Gene
AP1S3  AP-1 complex subunit sigma-3 [KO:K12395]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 615781
Network
nt06550  Lysosome biogenesis
Disease
H01656  Psoriasis
Reference
  Authors
Setta-Kaffetzi N, Simpson MA, Navarini AA, Patel VM, Lu HC, Allen MH, Duckworth M, Bachelez H, Burden AD, Choon SE, Griffiths CE, Kirby B, Kolios A, Seyger MM, Prins C, Smahi A, Trembath RC, Fraternali F, Smith CH, Barker JN, Capon F
  Title
AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking.
  Journal
Am J Hum Genet 94:790-7 (2014)
DOI:10.1016/j.ajhg.2014.04.005
LinkDB

DBGET integrated database retrieval system