Gene Symbol | SLC17A5 |
Entrez Gene ID | 26503 |
Full Name | solute carrier family 17 member 5 |
Synonyms | AST,ISSD,NSD,SD,SIALIN,SIASD,SLD |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Salla disease, 604369 (3); Sialic acid storage disorder, infantile, 269920 (3) |