Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Retinoic acid receptor RXR-gamma

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.

Genetests:

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

Related Diseases:

Combined familial hyperlipidemia with dysfunctional VLDL metabolism
ANGPTL8
APOA1
APOA4
APOA5
APOC3
CETP
GALNT2
LCAT
LIPC
LIPG
LPL
RXRG
USF1

References:

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 external link
10.

OMIM.ORG article

Omim 180247 external link
11.

Wikipedia article

Wikipedia EN (Retinoid_X_receptor_gamma) external link
Update: Aug. 14, 2020
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