Solute carrier family 49 member 4 (SLC49A4)

Solute carrier family 49 member 4 (SLC49A4, also known as DIRC2) is a membrane protein belonging to the major facilitator superfamily of transporters[1][2][3]. It functions as an H+-driven lysosomal pyridoxine exporter, meaning it mediates the export of pyridoxine (vitamin B6) from lysosomes in a proton-dependent manner[4][5]. Disruption or chromosomal translocation of SLC49A4 causes haploinsufficiency and is associated with the development of hereditary and nonpapillary renal cell carcinoma[1][2][4]. SLC49A4 is encoded on chromosome 3, is highly conserved, and is expressed in several tissues including kidney, liver, and placenta[6]. No drugs directly targeting SLC49A4 are currently identified in public databases[1][9].

Other names

DIRC2Disrupted in renal carcinoma 2Disrupted in renal cancer protein 2RCC4FLJ14784renal cell carcinoma 4

H+-driven lysosomal pyridoxine export (by mutation or modulation of SLC49A4/DIIRC2 function)