SN2 is an isoform of the system N glutamine transporters which is the principal mediator of glutamine transport in retinal Müller cells and contributes significantly to glutamine uptake in ganglion cells and, hence,
contributes to the retinal glutamate-glutamine cycle
cell & other
Gly, Ileu,Val, Arg, Lys, Glu, Asp and Phe
Variant & Polymorphism
A chromosomal aberration involving SLC38A5 is found in 3 brothers with non-syndromic mental retardation. However, the homozygous interstitial microdeletion at Xp11.23 causes also the loss of FTSJ1 and the link between SLC38A5 and the disease is not clear.