SLC2A4 Chromosome 17

Solute carrier family 2 member 4
1 variant 1 Health Risk

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What This Gene Does
This gene is a member of the solute carrier family 2 (facilitated glucose transporter) family and encodes a protein that functions as an insulin-regulated facilitative glucose transporter. In the absence of insulin, this integral membrane protein is sequestered within the cells of muscle and adipose tissue. Within minutes of insulin stimulation, the protein moves to the cell surface and begins to transport glucose across the cell membrane. Mutations in this gene have been associated with noninsulin-dependent diabetes mellitus (NIDDM). [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Solute carrier family 2
Locus Type
gene with protein product
Location
17p13.1
Ensembl
ENSG00000181856
Associated Conditions (1)
Type 2 diabetes mellitus
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS121434581 Health Risk Conflicting classifications of pathogenicity Type 2 diabetes mellitus, Type 2 diabetes mellitus
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