Defective SLC17A5 causes Salla disease (SD) and ISSD

Stable Identifier
R-HSA-5619035
Type
Pathway
Species
Homo sapiens
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SLC17A5 encodes a lysosomal sialic acid transporter, sialin (AST, membrane glycoprotein HP59) which exports sialic acid (N-acetylneuraminic acid, Neu5Ac) derived from the degradation of glycoconjugates from lysosomes. This export is dependent on the proton electrochemical gradient across the lysosomal membrane. SLC17A5 is present in the pathological tumor vasculature of the lung, breast, colon, and ovary, but not in the normal vasculature, suggesting that the protein may be critical to pathological angiogenesis. Sialin is not expressed in a variety of normal tissues, but is significantly expressed in human fetal lung. Defects in SLC17A5 cause Salla disease (SD) and infantile sialic acid storage disorder (ISSD aka N-acetylneuraminic acid storage disease, NSD). These diseases belong to the sialic acid storage diseases (SASDs) and are autosomal recessive neurodegenerative disorders characterised by hypotonia, cerebellar ataxia and mental retardation with patients excreting large amounts of free Neu5Ac in urine. ISSD is a severe infantile form of SASD with a more severe clinical course than SD (Verheijen et al. 1999, Aula et al. 2000).

Literature References
PubMed ID Title Journal Year
10947946 The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation

Aula, N, Salomäki, P, Timonen, R, Verheijen, F, Mancini, G, Månsson, JE, Aula, P, Peltonen, Leena

Am J Hum Genet 2000
10581036 A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases

Verheijen, FW, Verbeek, E, Aula, N, Beerens, CE, Havelaar, AC, Joosse, M, Peltonen, Leena, Aula, P, Galjaard, H, van der Spek, PJ, Mancini, GM

Nat Genet 1999
Participants
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Disease
Name Identifier Synonyms
inherited metabolic disorder 655 Metabolic hereditary disorder, Inborn Errors of Metabolism, inborn metabolism disorder
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