Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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.

external link
2.

NCBI article

NCBI 6256 external link
3.

OMIM.ORG article

Omim 180245 external link
4.

Wikipedia article

Wikipedia EN (Retinoid_X_receptor_alpha) external link
Update: Aug. 14, 2020
Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues