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gene: SLC17A5

id26503
symbolSLC17A5
organismHomo sapiens
full namesolute carrier family 17 member 5
summaryThis 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]
variant-disease

NM_012434.5(SLC17A5):c.1007_1008del (p.Leu336fs) AND Salla disease

NM_012434.5(SLC17A5):c.507del (p.Ala169_Leu170insTer) AND Salla disease

NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del) AND Salla disease

NM_012434.5(SLC17A5):c.548A>G (p.His183Arg) AND Sialic acid storage disease, severe infantile type

NM_012434.5(SLC17A5):c.533del (p.Thr178fs) AND not provided

... 161 more


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