KEGG   VARIANT: 286410v1
Entry
286410v1                      Variant                              
Name
ATP11C mutation
Type
Loss of function
Gene
ATP11C  ATPase phospholipid transporting 11C (ATP11C blood group) [KO:K26934]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 300516
Network
nt06535  Efferocytosis
Disease
H02658  X-linked congenital hemolytic anemia
Reference
PMID:26944472
  Authors
Arashiki N, Takakuwa Y, Mohandas N, Hale J, Yoshida K, Ogura H, Utsugisawa T, Ohga S, Miyano S, Ogawa S, Kojima S, Kanno H
  Title
ATP11C is a major flippase in human erythrocytes and its defect causes congenital hemolytic anemia.
  Journal
Haematologica 101:559-65 (2016)
DOI:10.3324/haematol.2016.142273
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