Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Renal sodium/phosphate cotransporter PIT-2

The SLC20A2 gene encodes one of three renal phosphate transporters. As net reabsoption of phosphate is accomplished by the other two, no serious disorder of phosphate handling associated with this gene is reported so far. Mutations cause autosomal dominant idiopathic basal ganglia calcification 1

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Idiopathic basal ganglia calcification 1
SLC20A2
Disorders of the renal phosphate transporters
Hypophosphatemic rickets with hypercalciuria
SLC34A3
Idiopathic basal ganglia calcification 1
SLC20A2
Nephrolithiasis/osteoporosis, hypophosphatemic, 1
SLC34A1
Nephrolithiasis/osteoporosis, hypophosphatemic, 2
SLC9A3R1

References:

1.

Garcia JV et. al. (1991) Localization of the amphotropic murine leukemia virus receptor gene to the pericentromeric region of human chromosome 8.

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2.

Kaelbling M et. al. (1991) Localization of the human gene allowing infection by gibbon ape leukemia virus to human chromosome region 2q11-q14 and to the homologous region on mouse chromosome 2.

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3.

van Zeijl M et. al. (1994) A human amphotropic retrovirus receptor is a second member of the gibbon ape leukemia virus receptor family.

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4.

Geschwind DH et. al. (1999) Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease).

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5.

Brodaty H et. al. (2002) Familial idiopathic basal ganglia calcification (Fahr's disease) without neurological, cognitive and psychiatric symptoms is not linked to the IBGC1 locus on chromosome 14q.

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6.

Oliveira JR et. al. (2004) Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease).

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7.

Dai X et. al. (2010) Identification of a novel genetic locus on chromosome 8p21.1-q11.23 for idiopathic basal ganglia calcification.

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8.

Wang C et. al. (2012) Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.

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9.

Hsu SC et. al. (2013) Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.

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Update: Sept. 26, 2018