Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The RXRG gene encodes a receptor and transcription factor which when bound to retinoic acid, vitamin D, and thyroid hormone regulates transcription of several genes. Variations in that gene are associated with familial combined hyperlipidemia.
| Research | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
Combined familial hyperlipidemia with dysfunctional VLDL metabolism
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ANGPTL8
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APOA1
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APOA4
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APOA5
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APOC3
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CETP
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GALNT2
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LCAT
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LIPC
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LIPG
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LPL
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RXRG
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USF1
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| 1. |
Repa JJ et al. (2000) Regulation of absorption and ABC1-mediated efflux of cholesterol by RXR heterodimers. 
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| 2. |
Lu TT et al. (2000) Molecular basis for feedback regulation of bile acid synthesis by nuclear receptors.
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| 3. |
Mangelsdorf DJ et al. (1992) Characterization of three RXR genes that mediate the action of 9-cis retinoic acid.
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| 4. |
Hoopes CW et al. (1992) Mapping of the mouse Rxr loci encoding nuclear retinoid X receptors RXR alpha, RXR beta, and RXR gamma.
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| 5. |
Almasan A et al. (1994) Chromosomal localization of the human retinoid X receptors.
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| 6. |
Samad TA et al. (1997) Regulation of dopaminergic pathways by retinoids: activation of the D2 receptor promoter by members of the retinoic acid receptor-retinoid X receptor family.
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| 7. |
Krezel W et al. (1998) Impaired locomotion and dopamine signaling in retinoid receptor mutant mice.
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| 8. |
Nohara A et al. (2007) High frequency of a retinoid X receptor gamma gene variant in familial combined hyperlipidemia that associates with atherogenic dyslipidemia.
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| 9. |
NCBI article NCBI 6258
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| 10. |
OMIM.ORG article Omim 180247
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| 11. |
Wikipedia article Wikipedia EN (Retinoid_X_receptor_gamma)
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