Presku: | AAP43932 |
Size: | 100 ug |
Weight: | 55kDa |
Gene: | 26503 |
Format: | Lyophilized powder |
Target: | SLC17A5 is a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. Mutations in SLC17A5 gene cause sialic acid storage diseases, including infantile sialic acid storage disorder and and Salla disease, an adult form.This gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. Mutations in this gene cause sialic acid storage diseases, including infantile sialic acid storage disorder and and Salla disease, an adult form. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Entrez Gene record to access additional publications. |
Alternative names: | AST; FLJ22227; FLJ23268; ISSD; NSD; SD; SIALIN; SIASD; SLD |