Nuclear Receptor Subfamily 1, Group H, Member 3

Alternative Names

  • NR1H3
  • Liver X Receptor, Alpha
  • LX Receptor, Alpha
  • LXRA
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OMIM Number

602423

NCBI Gene ID

10062

Uniprot ID

Q13133

Length

20,734 bases

No. of Exons

17

No. of isoforms

3

Protein Name

Oxysterols receptor LXR-alpha

Molecular Mass

50396 Da

Amino Acid Count

447

Genomic Location

chr11:47,248,299-47,269,032

Gene Map Locus
11p11.2

Description

The protein encoded by this gene belongs to the NR1 subfamily of the nuclear receptor superfamily. The NR1 family members are key regulators of macrophage function, controlling transcriptional programs involved in lipid homeostasis and inflammation. This protein is highly expressed in visceral organs, including liver, kidney and intestine. It forms a heterodimer with retinoid X receptor (RXR), and regulates expression of target genes containing retinoid response elements. Studies in mice lacking this gene suggest that it may play an important role in the regulation of cholesterol homeostasis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001130102.2:c.-93+4514G>AUnited Arab EmiratesNC_000011.10:g.47253513G>ANG_030392.1:g.10214G>A; NM_001130102.2:c.-93+4514G>A; NP_001123574.1:p.?10838681
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