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RXRA
180245


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Retinoid X receptor, alpha

Scientific background:

Summary: 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.

Methodology:

 

research
test
Method Genomic sequencing of the entire coding region
Turn-around time 25 working days
Effort medium
Specimen DNA
Quality assessment Internal quality control only
  All known and new missense, nonsense and splice mutations can be detected.

Systematic link table: 

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

Literature: 

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