概述| 货号 | RDC0427 |
| 别名 | AST; ASTSodium/sialic acid cotransporter; FLJ22227; FLJ23268; ISSD; Membrane glycoprotein HP59; NSD; SD; sialic acid storage disease; SIALIN; SIASD; SLC17A5; SLD; SLDSolute carrier family 17 member 5; solute carrier family 17 (anion/sugar transporter), member 5; solute carrier family 17, member 5 |
全称 | Solute Carrier Family 17 (Anion/Sugar Transporter), Member 5 | | 反应种属 | Human |
性能| 供应商 | R&D Systems |
| Entrez Gene IDs | 26503 (Human); 235504 (Mouse); 363103 (Rat) |
| 背景 | Sialin, the protein coded by 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 this gene cause sialic acid storage diseases, including infantile sialic acid storage disorder and Salla disease, an adult form. Sialic acid storage disease (SASD) is an autosomal recessive neurodegenerative disorder characterized by hypotonia, cerebellar ataxia and mental retardation. They can be caused by defects in the metabolism of sialic acid which results in increased urinary excretion of unconjugated sialic acid, specifically N-acetylneuraminic acid. |
| 运输条件 | Blue Ice |
| 存放说明 | -20℃ |
| 参考文献 | - Neurotransmitter Transporters
- Solute Carrier Family (SLC)
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