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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; integral to plasma membrane; lysosomal membrane; cytoplasmic membrane-bound vesicle
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Molecular Function: sugar:hydrogen ion symporter activity; sialic acid transmembrane transporter activity
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Biological Process: sialic acid transport; ion transport; transmembrane transport; anion transport
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Reference #:
Q9NRA2 (UniProtKB)
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| Alt. Names/Synonyms: AST; FLJ22227; FLJ23268; ISSD; Membrane glycoprotein HP59; NSD; S17A5; SD; sialic acid storage disease; Sialin; SIASD; SLC17A5; SLD; Sodium/sialic acid cotransporter; solute carrier family 17 (anion/sugar transporter), member 5; Solute carrier family 17 member 5; solute carrier family 17, member 5 |
| Gene Symbols: SLC17A5 |
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Molecular weight: 54,640 Da
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Basal Isoelectric point: 8.51
Predict pI for various phosphorylation states
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