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FLASH GENE
Symbol SLC34A1 contributors: mct/npt/pgu - updated : 20-05-2015
HGNC name solute carrier family 34 (sodium phosphate), member 1
HGNC id 11019
ASSOCIATED DISORDERS
corresponding disease(s) FRTS2 , NPHLOP1
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional germinal mutation      
a single amino acid substitution can lead to improper translocation of the protein to the cell membrane, disturbance of phosphate homeostasis, and renal calcification
constitutional     --low  
during lipopolysaccharide-induced acute inflammation
Susceptibility for osteoporis with nephrolithiasis with hypophosphatemia
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS