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Center for Nephrology and Metabolic Disorders
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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.

Genetests:

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
ARHGDIA

References:

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 external link
8.

OMIM.ORG article

Omim 601925 external link
9.

Orphanet article

Orphanet ID 356106 external link
10.

Wikipedia article

Wikipedia EN (ARHGDIA) external link
Update: Aug. 14, 2020
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