Gene Review:
AMMECR1 - Alport syndrome, mental retardation,...
Homo sapiens
Synonyms:
AMME syndrome candidate gene 1 protein
- Identification and characterization of a highly conserved protein absent in the Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E) contiguous gene deletion syndrome (AMME). Vitelli, F., Piccini, M., Caroli, F., Franco, B., Malandrini, A., Pober, B., Jonsson, J., Sorrentino, V., Renieri, A. Genomics (1999)
- Identification and characterization of mouse orthologs of the AMMECR1 and FACL4 genes deleted in AMME syndrome: orthology of Xq22.3 and MmuXF1-F3. Vitelli, F., Meloni, I., Fineschi, S., Favara, F., Tiziana Storlazzi, C., Rocchi, M., Renieri, A. Cytogenet. Cell Genet. (2000)