BLTP3B Chromosome 12

Bridge-like lipid transfer protein family member 3B
1 variant 1 Health Risk

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What This Gene Does
Enables GARP complex binding activity; lipid transfer activity; and protein homodimerization activity. Involved in early endosome to Golgi transport and intermembrane lipid transfer. Located in cytosol and early endosome. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Bridge-like lipid transfer protein family
Locus Type
gene with protein product
Location
12q23.1
Ensembl
ENSG00000111647
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS148532198 Health Risk Conflicting classifications of pathogenicity
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