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:
Related Diseases:
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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5. |
NCBI article
NCBI 79798
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6. |
OMIM.ORG article
Omim 615549
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7. |
Orphanet article
Orphanet ID 392330
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8. |
Wikipedia article
Wikipedia EN (ARMC5)
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Update: Aug. 14, 2020