Rho GDP Dissoziationsinhibitor (GDI) alpha
Das ARHGDIA-Gen kodiert ein Protein welches eine Bedeutung für die Signaltransduktion besitzt. Mutationen können das autosomal recessive kongenitale nephrotische Syndrom vom Typ 8 auslösen.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Shibata S et al. (2008) Modification of mineralocorticoid receptor function by Rac1 GTPase: implication in proteinuric kidney disease.
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2. |
Gupta IR et al. (2013) ARHGDIA: a novel gene implicated in nephrotic syndrome.
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3. |
Gee HY et al. (2013) ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling.
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4. |
Togawa A et al. (1999) Progressive impairment of kidneys and reproductive organs in mice lacking Rho GDIalpha.
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5. |
Leffers H et al. (1993) Identification of two human Rho GDP dissociation inhibitor proteins whose overexpression leads to disruption of the actin cytoskeleton.
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6. |
Wagner T et al. (1997) A somatic cell hybrid panel for distal 17q: GDIA1 maps to 17q25.3.
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7. |
NCBI article
NCBI 396
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8. |
OMIM.ORG article
Omim 601925
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9. |
Orphanet article
Orphanet ID 356106
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Update: 14. August 2020