Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Rho GDP dissociation inhibitor (GDI) alpha

The ARHGDIA gene encodes a protein that plays a key role in signal transduction. Mutations cause autosomal recessive congenital nephrotic syndrome, type 8.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Congenital nephrotic syndrome type 08



Togawa A et al. (1999) Progressive impairment of kidneys and reproductive organs in mice lacking Rho GDIalpha.


Shibata S et al. (2008) Modification of mineralocorticoid receptor function by Rac1 GTPase: implication in proteinuric kidney disease.


Gupta IR et al. (2013) ARHGDIA: a novel gene implicated in nephrotic syndrome.


Gee HY et al. (2013) ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling.


Leffers H et al. (1993) Identification of two human Rho GDP dissociation inhibitor proteins whose overexpression leads to disruption of the actin cytoskeleton.


Wagner T et al. (1997) A somatic cell hybrid panel for distal 17q: GDIA1 maps to 17q25.3.

Update: Sept. 26, 2018