ARMC5
Function
Involved in fetal development, T-cell function and adrenal gland growth homeostasis (By similarity). Negatively regulates adrenal cells survival. Plays a role in steroidogenesis, modulates steroidogenic enzymes expression and cortisol production (PubMed:24283224, PubMed:28676429).
Involvement in disease
ACTH-independent macronodular adrenal hyperplasia 2
AIMAH2
A form of macronodular adrenal hyperplasia characterized by multiple, bilateral, non-pigmented, benign, adrenocortical nodules. It results in excessive production of cortisol leading to ACTH-independent Cushing syndrome. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes.
None
The disease is caused by variants affecting the gene represented in this entry.
Cellular localization
- Cytoplasm
Alternative names
Armadillo repeat-containing protein 5, ARMC5