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ARMC5 encodes a member of the ARM (armadillo/beta-catenin-like repeat) superfamily. The ARM repeat is a tandemly repeated sequence motif with approximately 40 amino acid long. This repeat is implicated in mediating protein-protein interactions. The encoded protein contains seven ARM repeats. Mutations in this gene are associated with primary bilateral macronodular adrenal hyperplasia, which is also known as ACTH-independent macronodular adrenal hyperplasia 2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Gene Name: | armadillo repeat containing 5 |
Synonyms: | ARMC5, Armadillo repeat containing 5 |
Target Sequences: | NM_001105247 NP_001098717.1 Q96C12 |
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