XB-FEAT-992101

ammecr1

This is the community wiki page for the gene ammecr1 please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase

nomenclature changes

3.31.2022 The gene name for XB-GENEPAGE-992101 has changed from Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 to AMMECR nuclear protein 1

This follows a request to the NCBI to remove 'retardation' or any 'R' referencing retardation be removed from FMRP and any other terminology linked to fragile x in the gene database(s) as this is outdated and offensive terminology. SEE: "The Use of “Retardation” in FRAXA, FMRP, FMR1 and Other Designations" : https://www.mdpi.com/2073-4409/11/6/1044. It is written on behalf of 17 fragile x family associations calling for the removal of 'retardation' as discriminatory and stigmatic.

summary for human AMMECR1 from NCBI

The exact function of this gene is not known, however, submicroscopic deletion of the X chromosome including this gene, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]