SLC1A2, solute carrier family 1 member 2, 6506

N. diseases: 208; N. variants: 12
Disease: Alexander Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		0.010 GeneticVariation disease BEFREE Conversely, in mice engineered to express both AxD-associated mutations and elevated GFAP, which despite natural induction of Cryab also die at 1 month, transgenic over-expression of Cryab results in a markedly reduced CNS stress response, restores expression of the glutamate transporter Glt1 (EAAT2) and protects these animals from death. 19129171 2009