SLC34A3 Antibody

1. genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3 PMID: 29505567
2. This is the report of a patient with compound heterozygous mutations of SLC34A3 and normal skeletal features. Biallelic mutations in SLC34A3 can thus be associated with hypercalciuria not accompanied by rickets. PMID: 24924704
3. Individuals with mutations affecting both SLC34A3 alleles had a significantly increased risk of kidney stone formation or medullary nephrocalcinosis, namely 46% compared with 6% observed in healthy family members carrying only the wild-type allele. PMID: 24700880
4. this study reports the first cases of hereditary hypophosphatemic rickets with hypercalciuria in Africa and describes a novel causal mutation within the SLC34A3 gene PMID: 23246670
5. A man with hereditary hypophosphataemic rickets with hypercalciuria & his 3 heterozygous children had a mutation in intron 5 of gene SLC34A3 (NM_080877.2:c[ 448 +5G>A] + [ 448 +5G>A]). PMID: 22806288
6. Data show 101-bp deletion in intron 9 of the SLC34A3 gene. PMID: 22672866
7. SLC34A3 mutations (exons and introns) were searched in two previously not reported hereditary hypophosphatemic rickets with hypercalciuria kindreds, which resulted in the identification of three novel mutations. PMID: 22387237
8. these data suggest that mutations in SLC34A3 in hereditary hypophosphatemic rickets with hypercalciuria result in defective processing and stability PMID: 22159077
9. Functionally important sites in the predicted first and fourth extracellular linkers of the type IIa Na+/Pi cotransporter (NaPi-IIa) were identified by cysteine scanning mutagenesis (Ehnes et al., 2004). PMID: 15504899
10. NaP(i)-IIc has a key role in the regulation of phosphate homeostasis. PMID: 16358214
11. Loss of function of the SLC34A3 protein presumably results in a primary renal tubular defect and is compatible with the hereditary hypophosphatemic rickets with hypercalciuria phenotype. PMID: 16358215
12. Therefore, understanding the mechanisms that control the apical expression of NaPi-IIa and NaPi-IIc as well as their functional properties is critical to understanding how an organism achieves P i homeostasis. PMID: 16955105
13. Hereditary hypophosphatemic rickets with hypercalciuria were speculated to be associated with the abnormal functions of phosphate transporter gene type IIc. PMID: 17968493
14. A novel missense mutation in SLC34A3 causes hereditary hypophosphatemic rickets with hypercalciuria in humans. PMID: 18480181
15. Novel mutation in the SLC34A3 gene in a patient with an unusual presentation of hereditary hypophosphatemic rickets with hypercalciuria. PMID: 19820004

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HGNC: 20305

OMIM: 241530

KEGG: hsa:142680

STRING: 9606.ENSP00000355353

UniGene: Hs.432442