Aliases for GRAMD1B Gene
External Ids for GRAMD1B Gene
Previous HGNC Symbols for GRAMD1B Gene
Previous GeneCards Identifiers for GRAMD1B Gene
GeneCards Summary for GRAMD1B Gene
GRAMD1B (GRAM Domain Containing 1B) is a Protein Coding gene. Diseases associated with GRAMD1B include Disease Of Mental Health and Alacrima, Achalasia, And Mental Retardation Syndrome. Among its related pathways are Ectoderm Differentiation. An important paralog of this gene is GRAMD1A.
UniProtKB/Swiss-Prot Summary for GRAMD1B Gene
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 in the adrenal gland 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).