Disease-gene associations mined from literature

Literature associating ABCG5 and benign recurrent intrahepatic cholestasis 2

ABCG5 [ENSP00000260645]

ATP-binding cassette, sub-family G (WHITE), member 5; ABCG5 and ABCG8 form an obligate heterodimer that mediates Mg(2+)- and ATP-dependent sterol transport across the cell membrane. Plays an essential role in the selective transport of dietary plant sterols and cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile. Required for normal sterol homeostasis. The heterodimer with ABCG8 has ATPase activity; ATP binding cassette subfamily G

Synonyms:  ABCG5,  ABCG5p,  hABCG5,  E5RFY8,  E5RHB7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM