2025年3月30日 · ARMC5 (Armadillo Repeat Containing 5) is a Protein Coding gene. Diseases associated with ARMC5 include Acth-Independent Macronodular Adrenal Hyperplasia 2 and Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease .

2025年2月9日 · ARMC5 mutations are frequent in cortisol-secreting primary bilateral macronodular adrenal hyperplasia and seem to be associated with a particular pattern of the adrenal masses. This is the first report demonstrating germline deletion of ARMC5 in familial primary macronodular adrenal hyperplasia.

2013年11月28日 · ARMC5 inactivation decreased steroidogenesis in vitro, and its overexpression altered cell survival. Some cases of corticotropin-independent macronodular adrenal hyperplasia appear to be genetic,...

The ARMC5 gene provides instructions for making a protein about which little is known. It is found mainly in the fluid surrounding the cell nucleus (cytoplasm), and studies suggest that its function depends on interacting with other proteins.

2022年6月24日 · ARMC5 is implicated in several pathological conditions, but its function remains unknown. We have previously identified CUL3 and RPB1 (the largest subunit of RNA polymerase II (Pol II) as potential ARMC5-interacting proteins. Here, we show that ARMC5, CUL3 and RBX1 form an active E3 ligase complex s …

2022年6月28日 · Assie et al. (2013) stated that the ARMC5 protein contains an armadillo repeat domain, suggesting that protein-protein interactions are important for its function. Immunohistochemical analysis of human adrenal samples, HeLa cells, and H295R adrenocortical cancer cells showed that ARMC5 localized primarily to cytoplasm.

ARMC5 germline mutations are common in PBMAH. Index cases of mutation carriers show a more severe hypercortisolism and larger adrenals. ARMC5 genotyping may help to identify clinical forms of PBMAH better and may also allow earlier diagnosis of this disease.

Since the initial discovery of mutations in the Armadillo-containing repeat protein 5 gene (ARMC5) in primary bilateral macronodular adrenocortical hyperplasia (PBMAH), efforts have been made to better understand the molecular mechanisms involving ARMC5 in the development of …

该基因编码 ARM (犰狳/β-连环蛋白样重复序列) 超家族的成员。 ARM 重复序列是一个串联重复的序列基序，长度约为 40 个氨基酸。 这种重复与介导蛋白质-蛋白质相互作用有关。 编码的蛋白质包含七个 ARM 重复序列。 该基因的突变与原发性双侧大结节性肾上腺增生有关，也称为 ACTH 非依赖性大结节性肾上腺增生 2。 已发现该基因编码不同亚型的选择性剪接转录变体。 [RefSeq 提供，2014 年 9 月] This gene encodes a member of the ARM (armadillo/beta-catenin-like repeat) …

2025年2月5日 · Germline inactivating variants of the tumor suppressor gene ARMC5 are responsible for 20–25% of apparently sporadic PBMAH cases and 80% of familial presentations. ARMC5 screening is now routinely performed for PBMAH patients and families.