Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Armadillo repeat-containing protein 5

The ARMC5 gene encodes a protein that is probably involved in protein-protein interactions. Genomic mutations cause autosomal dominant ACTH-independent macronodular adrenal hyperplasia 2. Also somatic mutations occur which usually result in unilateral manifestation.

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:

ACTH-independent macronodular adrenal hyperplasia 2
ARMC5

References:

1.

Assié G et. al. (2013) ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome.

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2.

Faucz FR et. al. (2014) Macronodular adrenal hyperplasia due to mutations in an armadillo repeat containing 5 (ARMC5) gene: a clinical and genetic investigation.

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3.

Alencar GA et. al. (2014) ARMC5 mutations are a frequent cause of primary macronodular adrenal Hyperplasia.

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4.

Gagliardi L et. al. (2014) ARMC5 mutations are common in familial bilateral macronodular adrenal hyperplasia.

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Update: Sept. 26, 2018