KEGG   VARIANT: 51761v1
Entry
51761v1                      Variant                               
Name
ATP8A2 mutation
Type
Loss of function
Gene
ATP8A2  ATPase phospholipid transporting 8A2 [KO:K14802]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605870
Network
nt06535  Efferocytosis
Disease
H01204  Cerebellar ataxia, mental retardation (MR), and dysequilibrium syndrome (CAMRQ)
Reference
PMID:22892528
  Authors
Onat OE, Gulsuner S, Bilguvar K, Nazli Basak A, Topaloglu H, Tan M, Tan U, Gunel M, Ozcelik T
  Title
Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion.
  Journal
Eur J Hum Genet 21:281-5 (2013)
DOI:10.1038/ejhg.2012.170
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