GRAMD1B Chromosome 11

GRAM domain containing 1B
1 variant 1 Health Risk

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What This Gene Does
Predicted to enable cholesterol binding activity; cholesterol transfer activity; and phospholipid binding activity. Predicted to be involved in cellular response to cholesterol; cholesterol homeostasis; and intracellular sterol transport. Located in endoplasmic reticulum membrane; endoplasmic reticulum-plasma membrane contact site; and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
GRAM domain containing
Locus Type
gene with protein product
Location
11q24.1
Ensembl
ENSG00000023171
Associated Conditions (1)
Intellectual disability
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS1951071576 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
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