Lysosomal Transport Disorders


The lysosomal membrane contains several types of transporter including solute carriers, pumps and channels. Genetic disorders of these transporters cause many different neurological and visceral diseases, ranging from developmental to degenerative disorders.

Keywords: lysosome; Niemann–Pick; cystinosis; sialic acid; osteopetrosis


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Gahl WA, Thoene JG and Schneider JA (2001) Cystinosis a disorder of lysosomal membrane transport. In: Scriver C, Baudet A, Sly W and Valle D (eds.) The Metabolic and Molecular Basis of Inherited Disease, 8th ed. chap. 199, pp. 5085–5108. New York, NY: McGraw‐Hill.

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Havelaar AC, Beerens CE, Mancini GM and Verheijen FW (1999) Transport of organic anions by the lysosomal sialic acid transporter: a functional approach towards the gene for sialic acid storage disease. FEBS Letters 446(1): 65–68.

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Further Reading

Aula PP and Gahl WA (2001) Disorders of free sialic acid storage. In: Scriver C, Baudet A, Sly W and Valle D (eds.) The Metabolic and Molecular Basis of Inherited Disease, 8th ed. chap. 200, pp. 5109–5120. New York, NY: McGraw‐Hill

Web Links

Online Mendelian Inheritance in Man (OMIM):

Chloride channel 7 (CLCN7); LocusID: 1186. LocusLink:

Cystinosis, nephropathic (CTNS); LocusID: 1497. LocusLink:

Niemann–Pick disease, type C1 (NPC1); LocusID: 4864. LocusLink:

T‐cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3 (TCIRG1); LocusID: 10312. LocusLink:

Solute carrier family 17 (anion/sugar transporter), member 5 (SLC17A5); LocusID: 26503. LocusLink:

Chloride channel 7 (CLCN7); MIM number: 602727. OMIM:‐post/Omim/dispmim?602727

Cystinosis, nephropathic (CTNS); MIM number: 606272. OMIM:‐post/Omim/dispmim?606272

Niemann–Pick disease, type C1 (NPC1); MIM number: 257220. OMIM:‐post/Omim/dispmim?257220

T‐cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3 (TCIRG1); MIM number: 604592. OMIM:‐post/Omim/dispmim?604592

Solute carrier family 17 (anion/sugar transporter), member 5 (SLC17A5); MIM number: 604322. OMIM:‐post/Omim/dispmim?604322

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How to Cite close
Mancini, Grazia MS, and Verheijen, Frans W(Jan 2006) Lysosomal Transport Disorders. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0006110]