Search for a gene
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

Gene included in a panel of genes performed as part of a diagnostic test
Additional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.