Guanine-Nukleotidbindungsprotein, alpha 11
Das GNA11-Gens kodiert eine Komponente der G-Protein gekoppelten Rezeptoren, welches bei der Signaltransduktion des Cacium-sensing-Rezeptor eine Bedeutung besitzt. Inaktivierende Mutationen sind für die autosomal dominante hypocalciurische Hypercalciämie vom Typ 2 verantwortlich, während aktivierende Mutationen zur autosomal dominanten Hypocalciämie 2 führt.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Heath H et al. (1992) Genetic linkage analysis in familial benign hypercalcemia using a candidate gene strategy. I. Studies in four families.
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2. |
Wilkie TM et al. (1992) Evolution of the mammalian G protein alpha subunit multigene family.
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3. |
Van Raamsdonk CD et al. (2004) Effects of G-protein mutations on skin color.
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4. |
Kero J et al. (2007) Thyrocyte-specific Gq/G11 deficiency impairs thyroid function and prevents goiter development.
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5. |
Wirth A et al. (2008) G12-G13-LARG-mediated signaling in vascular smooth muscle is required for salt-induced hypertension.
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6. |
Jiang M et al. (1991) Guanine nucleotide-binding regulatory proteins in retinal pigment epithelial cells.
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7. |
Strathmann MP et al. (1991) G alpha 12 and G alpha 13 subunits define a fourth class of G protein alpha subunits.
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8. |
Van Raamsdonk CD et al. (2010) Mutations in GNA11 in uveal melanoma.
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9. |
Nesbit MA et al. (2013) Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia.
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10. |
Mannstadt M et al. (2013) Germline mutations affecting Gα11 in hypoparathyroidism.
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11. |
Davignon I et al. (1996) Gene structure of murine Gna11 and Gna15: tandemly duplicated Gq class G protein alpha subunit genes.
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12. |
Offermanns S et al. (1998) Embryonic cardiomyocyte hypoplasia and craniofacial defects in G alpha q/G alpha 11-mutant mice.
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13. |
Orphanet article
Orphanet ID 360224
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14. |
NCBI article
NCBI 2767
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15. |
OMIM.ORG article
Omim 139313
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Update: 14. August 2020