Human anion transporter gene implicated in Salla disease and lysosomal sialic acid transport

摘要

This invention decribes a novel human sialic acid transporter. This invention also encompasses nucleic acids encoding this protein. The protein can be used in the identification of activators or inhibitors. Several mutations have been observed in patients suffering from genetic disorders such as lysosomal storage disorders (Salla disease (SD) and the more severe infantile type ISSD). These mutations are informative in a diagnostic context.