Literature summary for 2.7.4.3 extracted from

Lagresle-Peyrou, C.; Six, E.M.; Picard, C.; Rieux-Laucat, F.; Michel, V.; Ditadi, A.; Demerens-de Chappedelaine, C.; Morillon, E.; Valensi, F.; Simon-Stoos, K.L.; Mullikin, J.C.; Noroski, L.M.; Besse, C.; Wulffraat, N.M.; Ferster, A.; Abecasis, M.M.; Calvo, F.; Petit, C.; Candotti, F.; Abel, L.; Fis, F.i.s.c.
Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness (2009), Nat. Genet., 41, 106-111.

Protein Variants

Protein Variants	Comment	Organism
D165G	the mutation is associated with reticular dysgenesis	Homo sapiens
E9X	the mutation is associated with reticular dysgenesis	Homo sapiens
K233X	the mutation is associated with reticular dysgenesis	Homo sapiens
L183X	the mutation is associated with reticular dysgenesis	Homo sapiens
R103W	the mutation is associated with reticular dysgenesis	Homo sapiens
R186C	the mutation is associated with reticular dysgenesis	Homo sapiens

Molecular Weight [Da]	Molecular Weight Maximum [Da]	Comment	Organism
25000	-	SDS-PAGE	Homo sapiens

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
ATP + AMP	Homo sapiens	-	ADP + ADP	-	?

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Source Tissue	Comment	Organism	Textmining
fibroblast	-	Homo sapiens	-
inner ear	adenylate kinase 2 is specifically expressed in the stria vascularis region of the inner ear	Homo sapiens	-

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
ATP + AMP	-	Homo sapiens	ADP + ADP	-	?

Synonyms	Comment	Organism
adenylate kinase 2	isoform	Homo sapiens
AK2	isoform	Homo sapiens

General Information	Comment	Organism
malfunction	adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness	Homo sapiens