AMMECR1 is an X-linked nuclear protein involved in cell cycle regulation and growth control. It localizes to the nucleus and contains nucleic acid-binding RAGNYA folds that enable protein dimerization 1. The protein functions in cell cycle progression, as demonstrated by studies showing that AMMECR1 silencing suppresses lung cancer cell proliferation, arrests cells in S and G2/M phases, reduces colony formation, and promotes apoptosis 2. AMMECR1 is coexpressed with genes implicated in cell cycle regulation 1 and represents a novel genetic cause of short stature 3. Loss-of-function mutations in AMMECR1 cause a recognizable syndromic phenotype characterized by short stature, midface hypoplasia, developmental delay, sensorineural hearing loss, and elliptocytosis 145. Additional features include cardiac and skeletal abnormalities, nephrocalcinosis, cleft palate, and congenital hip dysplasia 16. AMMECR1 mutations are part of the AMME complex (Alport syndrome, mental retardation, midface hypoplasia, elliptocytosis) mapped to Xq22.3 74. Notably, pathogenic variants in AMMECR1 alone account for most AMME features except Alport syndrome 4, and AMMECR1 is expressed in fetal inner ear, explaining hearing loss in affected individuals 6.