Nukleärer Rezeptor Unterfamilie 0 Gruppe B Member 2
Das NR0B2-Gen kodiert einen nukleären Hormonrezeptor, dessen Ligand noch nicht bekannt ist. Mutationen führen zu autosomal dominanter, sich frühzeitig manifestierender Adipositas.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Lu TT et al. (2000) Molecular basis for feedback regulation of bile acid synthesis by nuclear receptors.
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2. |
Goodwin B et al. (2000) A regulatory cascade of the nuclear receptors FXR, SHP-1, and LRH-1 represses bile acid biosynthesis.
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3. |
Nishigori H et al. (2001) Mutations in the small heterodimer partner gene are associated with mild obesity in Japanese subjects.
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4. |
Seol W et al. (1996) An orphan nuclear hormone receptor that lacks a DNA binding domain and heterodimerizes with other receptors.
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5. |
Lee HK et al. (1998) Structure and expression of the orphan nuclear receptor SHP gene.
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6. |
Kerr TA et al. (2002) Loss of nuclear receptor SHP impairs but does not eliminate negative feedback regulation of bile acid synthesis.
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7. |
Wang L et al. (2002) Redundant pathways for negative feedback regulation of bile acid production.
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8. |
Echwald SM et al. (2004) Mutation analysis of NR0B2 among 1545 Danish men identifies a novel c.278G>A (p.G93D) variant with reduced functional activity.
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9. |
Iyer AK et al. (2006) Dosage-sensitive sex reversal adrenal hypoplasia congenita critical region on the X chromosome, gene 1 (DAX1) (NR0B1) and small heterodimer partner (SHP) (NR0B2) form homodimers individually, as well as DAX1-SHP heterodimers.
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10. |
Iyer AK et al. () LXXLL motifs and AF-2 domain mediate SHP (NR0B2) homodimerization and DAX1 (NR0B1)-DAX1A heterodimerization.
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11. |
NCBI article
NCBI 8431
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12. |
OMIM.ORG article
Omim 604630
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Update: 14. August 2020