DISEASES

Disease-gene associations mined from literature

Literature associating SLC22A17 and autosomal dominant nonsyndromic deafness 23

SLC22A17 [ENSP00000380437]

Solute carrier family 22 member 17; Cell surface receptor for LCN2 (24p3) that plays a key role in iron homeostasis and transport. Able to bind iron-bound LCN2 (holo- 24p3), followed by internalization of holo-24p3 and release of iron, thereby increasing intracellular iron concentration and leading to inhibition of apoptosis. Also binds iron-free LCN2 (apo-24p3), followed by internalization of apo-24p3 and its association with an intracellular siderophore, leading to iron chelation and iron transfer to the extracellular medium, thereby reducing intracellular iron concentration and resulting in apoptosis (By similarity).

Synonyms:  SLC22A17,  A0A1B0GUC0,  A0A1B0GVR9,  A0A1C7CYV9,  H9KVA1 ...

Linkouts:  STRING  Pharos  UniProt