Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Retinoid X receptor, alpha

The product binds to various nuclear receptors, such as the vitamin D receptor, so it might be involved in diseases with impaired receptor function but without an alteration of the receptor itself. There is not yet known a disease associated with mutations of this gene.

Genetests:

Clinic Method Genomic sequencing of the entire coding region
Turnaround 20
Specimen type genomic DNA

Related Diseases:

Osteoporosis/renal Osteodystrophy
CASR
LRP5
RXRA
VDR
Vitamin D-dependent rickets, type 2B
RXRA

References:

1.

Hegele RA et al. (2001) Single nucleotide polymorphisms of RXRA encoding retinoid X receptor alpha.

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Update: Sept. 26, 2018