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:

Research Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 20 days
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.

[^]
2.

NCBI article

NCBI 6256 [^]
3.

OMIM.ORG article

Omim 180245 [^]
4.

Wikipedia article

Wikipedia EN (Retinoid_X_receptor_alpha) [^]
Update: April 29, 2019