Gene Symbol | ARMC5 |
Entrez Gene ID | 79798 |
Full Name | armadillo repeat containing 5 |
Synonyms | AIMAH2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene 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. [provided by RefSeq, Sep 2014]. |
Disorder MIM: | |
Disorder Html: | ACTH-independent macronodular adrenal hyperplasia 2, 615954 (3) |