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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.


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



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

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

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

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NCBI article

NCBI 79798 external link

OMIM.ORG article

Omim 615549 external link

Orphanet article

Orphanet ID 392330 external link

Wikipedia article

Wikipedia EN (ARMC5) external link
Update: Aug. 14, 2020
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