Disease-gene associations mined from literature

Literature associating SCARA5 and X-linked properdin deficiency

SCARA5 [ENSP00000346990]

Scavenger receptor class A, member 5; Ferritin receptor that mediates non-transferrin- dependent delivery of iron. Mediates cellular uptake of ferritin- bound iron by stimulating ferritin endocytosis from the cell surface with consequent iron delivery within the cell. Delivery of iron to cells by ferritin is required for the development of specific cell types, suggesting the existence of cell type- specific mechanisms of iron traffic in organogenesis, which alternatively utilize transferrin or non-transferrin iron delivery pathways. Ferritin mediates iron uptake in capsule cells of the developing kidney. Binds preferrentially ferritin light chain (FTL) compared to heavy chain (FTH1); Scavenger receptor cysteine rich domain containing

Synonyms:  SCARA5,  SCARA5p,  hSCARA5,  Q6ZMJ2,  Q6ZMJ2p ...

Linkouts:  STRING  Pharos  UniProt  OMIM