Chicken Sodium-Dependent Phosphate Transport Protein 2A (SLC34A1) ELISA Kit | SLC34A1 elisa kit
Chicken Sodium-Dependent Phosphate Transport Protein 2A (SLC34A1) ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a member of the type II sodium-phosphate cotransporter family. Mutations in this gene are associated with hypophosphatemia nephrolithiasis/osteoporosis 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]
Uniprot Description
SLC34A1: May be involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane. Probably mediates 70-80% of the apical influx. Defects in SLC34A1 are the cause of hypophosphatemic nephrolithiasis/osteoporosis type 1 (NPHLOP1). Hypophosphatemia results from idiopathic renal phosphate loss. It contributes to the pathogenesis of hypophosphatemic urolithiasis (formation of urinary calculi) as well to that of hypophosphatemic osteoporosis (bone demineralization). Defects in SLC34A1 are the cause of Fanconi renotubular syndrome type 2 (FRTS2). It is a disease resulting from a generalized dysfunction of the proximal kidney tubule leading to decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. Belongs to the SLC34A transporter family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Transporter; Transporter, SLC family; Membrane protein, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 5q35
Cellular Component: apical plasma membrane; brush border; brush border membrane; cell surface; cytoplasm; endosome; integral to plasma membrane; lipid raft; perinuclear region of cytoplasm; plasma membrane; vesicle
Molecular Function: inorganic phosphate transmembrane transporter activity; PDZ domain binding; protein binding; protein complex binding; protein homodimerization activity; sodium-dependent phosphate transmembrane transporter activity; sodium:phosphate symporter activity
Biological Process: cellular phosphate ion homeostasis; cellular protein metabolic process; glycoprotein metabolic process; indole metabolic process; kidney development; ossification; phosphate ion homeostasis; phosphate transport; positive regulation of membrane potential; protein homooligomerization; response to cadmium ion; response to drug; response to estradiol stimulus; response to lead ion; response to magnesium ion; response to mercury ion; response to vitamin A
Disease: Fanconi Renotubular Syndrome 2; Nephrolithiasis/osteoporosis, Hypophosphatemic, 1