{"symbol":"AMMECR1","synonyms":["MFHIEN","AMMERC1"],"name":"Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1","description":"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]","ncbiEntrezGeneId":9949,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/9949","proteins":[{"symbol":"AMMR1_HUMAN","href":"/api/1.0/protein/AMMR1_HUMAN"}],"hgncRootFamilies":[]}