Gene Symbol | SLC20A2 |
Entrez Gene ID | 6575 |
Full Name | solute carrier family 20 member 2 |
Synonyms | GLVR-2,GLVR2,IBGC1,IBGC3,MLVAR,PIT-2,PIT2,RAM1,Ram-1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Basal ganglia calcification, idiopathic, 1, 213600 (3) |