" /> SLC17A5 wt Allele - CISMeF





Preferred Label : SLC17A5 wt Allele;

NCIt synonyms : Infantile Sialic Acid Storage Disorder Gene; Acidic Sugar Transporter Gene; ISSD; SIASD; Sodium/Sialic Acid Cotransporter Gene; Vesicular H( )/Aspartate-Glutamate Cotransporter Gene; Solute Carrier Family 17 (Acidic Sugar Transporter), Member 5 Gene; Salla Disease Gene; Solute Carrier Family 17 (Anion/Sugar Transporter), Member 5 Gene; SLD; SD; Sialic Acid Storage Disease Gene; NSD; Solute Carrier Family 17 Member 5 wt Allele; VEAT; AST; SIALIN; Solute Carrier Family 17 (Sodium Phosphate Coransporter), Member 5 Gene;

NCIt definition : Human SLC17A5 wild-type allele is located in the vicinity of 6q13 and is approximately 61 kb in length. This allele, which encodes sialin protein, plays a role in the regulation of transport for nitrate ions, amino acids, peptides and sialic acid. Mutations in the gene are associated with infantile sialic acid storage disorder and Salla disease.;

GenBank Accession Number : AJ387747;

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07/05/2025


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