Literature summary for 7.6.2.1 extracted from

Onat, O.E.; Gulsuner, S.; Bilguvar, K.; Nazli Basak, A.; Topaloglu, H.; Tan, M.; Tan, U.; Gunel, M.; Ozcelik, T.
Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion (2013), Eur. J. Hum. Genet., 21, 281-285.

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Protein Variants

Protein Variants	Comment	Organism
I376M	missense mutation identified in a patient with cerebellar ataxia, mental retardation and dysequilibrium syndrome. The mutation lies in a highly conserved C-terminal transmembrane region of E1 E2 ATPase domain	Homo sapiens
additional information	a gene disruption mutation leads to mental retardation and severe hypotonia	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q9NTI2	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
brain	-	Homo sapiens	-
cerebellum	-	Homo sapiens	-
additional information	expression mainly during development	Homo sapiens	-

Synonyms

Synonyms	Comment	Organism
Atp8a2	-	Homo sapiens

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Release 2023.1 (January 2023)