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SLC17A5
Primary solute translocator for anionic substances; particularly it is a free sialic acid transporter in the lysosomes (Probable). Defects in SLC17A5 are the cause of Salla disease (SD); also known as Finnish type sialuria. SD is a sialic acid storage disease (SASD). SASDs are autosomal recessive neurodegenerative disorders characterized by hypotonia, cerebellar ataxia and mental retardation. They are caused by a defect in the metabolism of sialic acid which results in increased urinary excretion of unconjugated sialic acid, specifically N- acetylneuraminic acid. Enlarged lysosomes are seen on electron microscopic studies. Clinical symptoms of SD present usually at age less than 1 year and progression is slow. Defects in SLC17A5 are the cause of infantile sialic acid storage disorder (ISSD); also known as N- acetylneuraminic acid storage disease (NSD). ISSD is a severe form of sialic acid storage disease. Affected newborns exhibit visceromegaly, coarse features and failure to thrive immediately after birth. These patients have a shortened life span, usually less than 2 years. Infantile sialic acid storage disorder is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end- stage of a wide variety of disorders. Belongs to the major facilitator superfamily. Sodium/anion cotransporter family. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
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| Protein type: Membrane protein, integral; Vesicle protein; Transporter |
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Cellular Component: membrane; lysosomal membrane; lysosome; cytoplasmic membrane-bound vesicle; plasma membrane; integral to membrane
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Molecular Function: symporter activity; sialic acid transmembrane transporter activity
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Biological Process: sialic acid transport; transport; transmembrane transport
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Reference #:
Q8BN82 (UniProtKB)
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| Alt. Names/Synonyms: 4631416G20Rik; 4732491M05; AST; ISSD; NSD; S17A5; SD; Sialin; SIASD; Slc17a5; SLD; Sodium/sialic acid cotransporter; solute carrier family 17 (anion/sugar transporter), member 5; Solute carrier family 17 member 5 |
| Gene Symbols: Slc17a5 |
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Molecular weight: 54,369 Da
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Basal Isoelectric point: 7.59
Predict pI for various phosphorylation states
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