Human Sialin/SLC17A5 (NP_036566) VersaClone cDNA

Catalog # Availability Size / Price Qty
RDC0427
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Human Sialin/SLC17A5 (NP_036566) VersaClone cDNA Summary

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.

Specifications

Shipping Conditions
The product is shipped at ambient temperature. Upon receipt, store it immediately at the temperature recommended below.
Storage
Store the unopened product at -20 to -70 °C. Use a manual defrost freezer and avoid repeated freeze-thaw cycles. Do not use past expiration date.
Species
Human

Product Datasheets

Background: Sialin/SLC17A5

Long Name
Solute Carrier Family 17 (Anion/Sugar Transporter), Member 5
Entrez Gene IDs
26503 (Human); 235504 (Mouse); 363103 (Rat)
Alternate Names
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

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