KEGG   VARIANT: 23250v1
Entry
23250v1                      Variant                               
Name
ATP11A mutation
Type
Loss of function
Gene
ATP11A  ATPase phospholipid transporting 11A [KO:K26934]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605868
Network
nt06535  Efferocytosis
Disease
H00604  Deafness, autosomal dominant
H00679  Hypomyelinating leukodystrophy
H02339  Auditory neuropathy
Reference
PMID:34403372
  Authors
Segawa K, Kikuchi A, Noji T, Sugiura Y, Hiraga K, Suzuki C, Haginoya K, Kobayashi Y, Matsunaga M, Ochiai Y, Yamada K, Nishimura T, Iwasawa S, Shoji W, Sugihara F, Nishino K, Kosako H, Ikawa M, Uchiyama Y, Suematsu M, Ishikita H, Kure S, Nagata S
  Title
A sublethal ATP11A mutation associated with neurological deterioration causes aberrant phosphatidylcholine flipping in plasma membranes.
  Journal
J Clin Invest 131:148005 (2021)
DOI:10.1172/JCI148005
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