KEGG   VARIANT: 102v1
Entry
102v1                      Variant                                 
Name
ADAM10 mutation
Gene
ADAM10  ADAM metallopeptidase domain 10 [KO:K06704]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602192
Network
nt06535  Efferocytosis
Disease
H00056  Alzheimer disease
H02665  Reticulate acropigmentation of Kitamura
Reference
  Authors
Kono M, Sugiura K, Suganuma M, Hayashi M, Takama H, Suzuki T, Matsunaga K, Tomita Y, Akiyama M
  Title
Whole-exome sequencing identifies ADAM10 mutations as a cause of reticulate acropigmentation of Kitamura, a clinical entity distinct from Dowling-Degos  disease.
  Journal
Hum Mol Genet 22:3524-33 (2013)
DOI:10.1093/hmg/ddt207
Reference
  Authors
Kim M, Suh J, Romano D, Truong MH, Mullin K, Hooli B, Norton D, Tesco G, Elliott K, Wagner SL, Moir RD, Becker KD, Tanzi RE
  Title
Potential late-onset Alzheimer's disease-associated mutations in the ADAM10 gene attenuate {alpha}-secretase activity.
  Journal
Hum Mol Genet 18:3987-96 (2009)
DOI:10.1093/hmg/ddp323
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