SLC17A4 Chromosome 6

Solute carrier family 17 member 4
2 variants 2 Health Risk

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What This Gene Does
Phosphate homeostasis is maintained by regulating intake, intestinal absorption, bone deposition and resorption, and renal excretion of phosphate. The central molecule in the control of phosphate excretion from the kidney is the sodium/phosphate cotransporter NPT1 (SLC17A1; MIM 182308), which is located in the renal proximal tubule. NPT1 uses the transmembrane electrochemical potential gradient of sodium to transport phosphate across the cell membrane. SLC17A4 is a similar sodium/phosphate cotransporter in the intestinal mucosa that plays an important role in the absorption of phosphate from the intestine (summary by Shibui et al., 1999 [PubMed 10319585]).[supplied by OMIM, Feb 2011]
Gene Info
Gene Group
Solute carrier family 17
Locus Type
gene with protein product
Location
6p22.2
Ensembl
ENSG00000146039
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS143424660 Health Risk Conflicting classifications of pathogenicity
RS150942022 Health Risk Conflicting classifications of pathogenicity
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