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SLC34A1 - solute carrier family 34 member 1
- Synonym(s) : Na+-phosphate cotransporter type II, NAPI-3, NPTIIa, SLC11, sodium/phosphate co-transporter, solute carrier family 17 (sodium phosphate), member 2
- Previous symbols and names : NPT2, SLC17A2, solute carrier family 34 (sodium phosphate), member 1, solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
- Type : gene with protein product
- Chromosomal location : 5q35.3
- OMIM: 182309
- HGNC: 11019
- UniProtKB: Q06495
- Genatlas: SLC34A1
- Ensembl: ENSG00000131183
- IUPHAR-DB: -
- Reactome: Q06495
- LOVD: SLC34A1
Diseases list
- Disease-causing germline mutation(s) in Dominant hypophosphatemia with nephrolithiasis or osteoporosis
ORPHA:244305 
- Disease-causing germline mutation(s) (loss of function) in Autosomal recessive infantile hypercalcemia
ORPHA:300547 - Disease-causing germline mutation(s) (loss of function) in Primary Fanconi renotubular syndrome
ORPHA:3337
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
Patient-centred resources for this gene
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