AMMECR nuclear protein 1 (AMMECR1)

AMMECR nuclear protein 1 is a highly conserved nuclear protein encoded by the *AMMECR1* gene on Xq22.3. This protein is defined by a RAGNYA fold, suggesting potential interaction with nucleic acids or nucleotides, and is thought to participate in fundamental cellular processes within the nucleus. Mutations, deletions, or loss-of-function variants of AMMECR1 are implicated in a contiguous gene deletion syndrome characterized by Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis, cardiac and skeletal malformations, and hearing loss. AMMECR1 may play a role in regulating cell cycle progression and growth; for example, downregulation in lung cancer cell lines suppresses proliferation and induces apoptosis. Despite conservation and disease association, its precise molecular function is unknown and it is not considered a therapeutic drug target at this time[1][2][5][6].

Other names

AMME syndrome candidate gene 1 proteinAMMERC1MFHIENnuclear protein AMMECR1AMMECR nuclear protein 1