The slc17a5 gene encodes a sialin protein which is a lysosomal membrane-bound anion/cation symporter responsible for transporting sialic acid and other acidic sugars out of lysosomes following macromol...[+]

The slc17a5 gene encodes a sialin protein which is a lysosomal membrane-bound anion/cation symporter responsible for transporting sialic acid and other acidic sugars out of lysosomes following macromolecule degradation. In embryos, its expression is detected in the neural tube, otic vesicle, branchial arches, pronephros, and developing eye. The protein facilitates the transport of glucuronic acid and aspartate alongside sialic acid and is localized to the lysosomal membrane. [-]

          INFANTILE SIALIC ACID STORAGE DISEASE; ISSD

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD