SLC20A2 Antibody – Mouse Monoclonal

This gene encodes a member of the inorganic phosphate transporter family. The encoded protein is a type 3 sodium-dependent phosphate symporter that plays an important role in phosphate homeostasis by mediating cellular phosphate uptake. The encoded protein also confers susceptibility to viral infection as a gamma-retroviral receptor. Mutations in this gene may play a role in familial idiopathic basal ganglia calcification. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]

SLC20A2: Sodium-phosphate symporter which seems to play a fundamental housekeeping role in phosphate transport by absorbing phosphate from interstitial fluid for normal cellular functions such as cellular metabolism, signal transduction, and nucleic acid and lipid synthesis. In vitro, sodium-dependent phosphate uptake is not siginificantly affected by acidic and alkaline conditions, however sodium-independent phosphate uptake occurs at acidic conditions. May play a role in extracellular matrix, cartilage and vascular calcification. Functions as a retroviral receptor and confers human cells susceptibility to infection to amphotropic murine leukemia virus (A-MuLV), 10A1 murine leukemia virus (10A1 MLV) and some feline leukemia virus subgroup B (FeLV-B) variants. Defects in SLC20A2 are the cause of basal ganglia calcification, idiopathic, type 3 (IBGC3). An autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. Belongs to the inorganic phosphate transporter (PiT) (TC 2.A.20) family.

Protein type: Transporter; Membrane protein, integral; Transporter, SLC family; Receptor, misc.; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 8p11.21

Cellular Component: membrane; integral to plasma membrane; plasma membrane

Molecular Function: viral receptor activity; receptor activity; sodium:phosphate symporter activity; inorganic phosphate transmembrane transporter activity

Biological Process: entry of virus into host cell; transport; ion transport; transmembrane transport

Disease: Basal Ganglia Calcification, Idiopathic, 1