SLC20A1
Description
The SLC20A1 (solute carrier family 20 member 1) is a protein-coding gene located on chromosome 2.
Sodium-dependent phosphate transporter 1 is a protein that in humans is encoded by the SLC20A1 gene. Retrovirus receptors allow infection of human and murine cells by various retroviruses. The receptors that have been identified at the molecular level include CD4 (MIM 186940) for human immunodeficiency virus, Rec1 for murine ecotropic virus, and GLVR1 for gibbon ape leukemia virus (see MIM 182090). These 3 proteins show no homology to one another at the DNA or protein level. GLVR1 is a sodium-dependent phosphate symporter. [supplied by OMIM]
== Research == It was reported that mutations of the gene may cause epispadias or bladder exstrophy.
== See also == Solute carrier family
== References ==
== Further reading ==
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
SLC20A1 is a sodium-phosphate symporter that preferentially transports the monovalent form of phosphate with a stoichiometry of two sodium ions per phosphate ion. It may play a role in extracellular matrix and cartilage calcification, as well as in vascular calcification. SLC20A1 is essential for cell proliferation, but this function is independent of its phosphate transporter activity.
SLC20A1 is also known as GLVR1, Glvr-1, PIT1, PiT-1.
Associated Diseases
- hemoglobin D disease
- alpha thalassemia-intellectual disability syndrome type 1
- Heinz body anemia
- hemolytic anemia due to adenylate kinase deficiency
- hemoglobin E disease
- dominant beta-thalassemia
- delta-beta-thalassemia
- hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
- hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- hemoglobin C-beta-thalassemia syndrome
- dehydrated hereditary stomatocytosis
- hereditary elliptocytosis
- hemoglobin H disease
- severe congenital hypochromic anemia with ringed sideroblasts
- beta-thalassemia-X-linked thrombocytopenia syndrome
- overhydrated hereditary stomatocytosis
