STAB1 Chromosome 3

Stabilin 1
5 variants 1 Health Risk 4 Trait

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What This Gene Does
This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 16 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to endocytose ligands such as low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein rapidly cycles between the plasma membrane and early endosomes. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Scavenger receptors
Locus Type
gene with protein product
Location
3p21.1
Ensembl
ENSG00000010327
Associated Conditions (1)
Isolated hyperferritinemia
Key Variants
All Variants (5)
RSID Category Clinical Significance Conditions
RS144486006 Health Risk Conflicting classifications of pathogenicity
RS1484029620 Trait Affects Isolated hyperferritinemia, Isolated hyperferritinemia
RS2471650524 Trait Affects Isolated hyperferritinemia, Isolated hyperferritinemia
RS748728975 Trait Affects Isolated hyperferritinemia, Isolated hyperferritinemia
RS754318051 Trait Affects Isolated hyperferritinemia, Isolated hyperferritinemia
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