Definition AMMEC is genetic locus on chromosome Xq22.3 which is thought to bear the gene that causes AMME complex (Alport syndrome—mental retardation—midface hypoplasia—and elliptocytosis, OMIM: 300194), a contiguous gene syndrome.
Molecular pathology The contiguous genes affected in AMME complex include
• COL4A5—which encodes collagen—type 4—alpha 5
• FACL4—which encodes a long-chain acyl-CoA synthetase, and
• AMMECR1—which encodes a protein of unknown function.
Synonym cXdelq22.3, delXq22.3, Alport syndrome, Mental retardation, Midface hypoplasia, and Elliptocytosis,