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Protein Page:
SLC17A5 (human)

Overview
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.
Protein type: Membrane protein, integral; Membrane protein, multi-pass; Transporter; Transporter, SLC family; Vesicle
Chromosomal Location of Human Ortholog: 6q13
Cellular Component: cytoplasm; integral to plasma membrane; lysosomal membrane; membrane; plasma membrane
Molecular Function: sialic acid transmembrane transporter activity; sialic acid:hydrogen ion symporter activity; sugar:hydrogen ion symporter activity
Biological Process: anion transport; ion transport; sialic acid transport
Disease: Infantile Sialic Acid Storage Disease; Salla Disease
Reference #:  Q9NRA2 (UniProtKB)
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
Molecular weight: 54,640 Da
Basal Isoelectric point: 8.51  Predict pI for various phosphorylation states
Select Structure to View Below

SLC17A5

Protein Structure Not Found.


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