DISEASES

Disease-gene associations mined from literature

Literature associating SLC17A5 and nemaline myopathy 1

SLC17A5 [ENSP00000348019]

Solute carrier family 17 (acidic sugar transporter), member 5; 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; Belongs to the major facilitator superfamily. Sodium/anion cotransporter family.

Synonyms:  SLC17A5,  SLC17A5p,  hSLC17A5,  H0UI05,  Q9NRA2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM