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]
Function:
Transports glucuronic acid and free sialic acid out of the lysosome after it is cleaved from sialoglycoconjugates undergoing degradation, this is required for normal CNS myelination. Mediates aspartate and glutamate membrane potential-dependent uptake into synaptic vesicles and synaptic-like microvesicles. Also functions as an electrogenic 2NO(3)(-)/H(+) cotransporter in the plasma membrane of salivary gland acinar cells, mediating the physiological nitrate efflux, 25% of the circulating nitrate ions is typically removed and secreted in saliva.
Subcellular Location:
Cell membrane. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane. Lysosome membrane.
Tissue Specificity:
Found in fetal lung and small intestine, and at lower level in fetal skin and muscle. In the adult, detected in placenta, kidney and pancreas. Abundant in the endothelial cells of tumors from ovary, colon, breast and lung, but is not detected in endothelial cells from the corresponding normal tissues.
DISEASE:
Salla disease
Infantile sialic acid storage disorder
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.
Similarity:
Belongs to the major facilitator superfamily. Sodium/anion cotransporter family.
SWISS:
Q9NRA2
Gene ID:
26503
Database links:
Entrez Gene: 26503 Human
Entrez Gene: 235504 Mouse
Entrez Gene: 363103 Rat
Omim: 604322 Human
SwissProt: Q9NRA2 Human
SwissProt: Q8BN82 Mouse
Unigene: 597422 Human
Unigene: 46932 Mouse
Unigene: 74591 Rat
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