Solute Carrier Family 17 (Anion/Sugar Transporter), Member 5 (SLC17A5) Antibody – Rabbit Polyclonal

This gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. Mutations in this gene cause sialic acid storage diseases, including infantile sialic acid storage disorder and and Salla disease, an adult form. [provided by RefSeq, Jul 2008]

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.

Protein type: Membrane protein, multi-pass; Vesicle; Transporter, SLC family; Membrane protein, integral; Transporter

Chromosomal Location of Human Ortholog: 6q13

Cellular Component: synaptic vesicle membrane; membrane; integral to plasma membrane; lysosomal membrane; cytoplasm; plasma membrane; cell junction

Molecular Function: sialic acid transmembrane transporter activity; sugar:hydrogen ion symporter activity

Biological Process: proton transport; cellular protein metabolic process; dolichol-linked oligosaccharide biosynthetic process; sialic acid transport; amino acid transport; ion transport; protein amino acid N-linked glycosylation via asparagine; post-translational protein modification; transmembrane transport; anion transport

Disease: Salla Disease; Infantile Sialic Acid Storage Disease