DISEASES

Disease-gene associations mined from literature

Literature associating SLC12A4 and hemoglobin C disease

SLC12A4 [ENSP00000395983]

Solute carrier family 12 (potassium/chloride transporter), member 4; Mediates electroneutral potassium-chloride cotransport when activated by cell swelling. May contribute to cell volume homeostasis in single cells. May be involved in the regulation of basolateral Cl(-) exit in NaCl absorbing epithelia (By similarity). Isoform 4 has no transport activity; Belongs to the SLC12A transporter family.

Synonyms:  SLC12A4,  SLC12A4p,  hSLC12A4,  I3L1N8,  I3L4N6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM