KEGG   VARIANT: 7852v1
Entry
7852v1                      Variant                                
Name
CXCR4 mutation
Type
Loss of function
Gene
CXCR4  C-X-C motif chemokine receptor 4 [KO:K04189]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 162643
Network
nt06533  Chemokine signaling
Disease
H00097  WHIM syndrome
Reference
PMID:18436740
  Authors
Lagane B, Chow KY, Balabanian K, Levoye A, Harriague J, Planchenault T, Baleux F, Gunera-Saad N, Arenzana-Seisdedos F, Bachelerie F
  Title
CXCR4 dimerization and beta-arrestin-mediated signaling account for the enhanced chemotaxis to CXCL12 in WHIM syndrome.
  Journal
Blood 112:34-44 (2008)
DOI:10.1182/blood-2007-07-102103
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