DISEASES

Disease-gene associations mined from literature

Literature on GRAMD1C

GRAMD1C [ENSP00000350881]

Protein Aster-C; Cholesterol transporter that mediates non-vesicular transport of cholesterol from the plasma membrane (PM) to the endoplasmic reticulum (ER) (By similarity). Contains unique domains for binding cholesterol and the PM, thereby serving as a molecular bridge for the transfer of cholesterol from the PM to the ER (By similarity). Plays a crucial role in cholesterol homeostasis and has the unique ability to localize to the PM based on the level of membrane cholesterol (By similarity). In lipid-poor conditions localizes to the ER membrane and in response to excess cholesterol in the PM is recruited to the endoplasmic reticulum-plasma membrane contact sites (EPCS) which is mediated by the GRAM domain (By similarity). At the EPCS, the sterol- binding VASt/ASTER domain binds to the cholesterol in the PM and facilitates its transfer from the PM to ER (By similarity).

Synonyms:  GRAMD1C,  GRAMD1Cp,  hGRAMD1C,  B4DF12,  C9J7B8 ...

Linkouts:  STRING  Pharos  UniProt