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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.

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.

external link
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.

external link
3.

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

external link
4.

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

external link
5.

NCBI article

NCBI 79798 external link
6.

OMIM.ORG article

Omim 615549 external link
7.

Orphanet article

Orphanet ID 392330 external link
8.

Wikipedia article

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