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AMMECR1

Official Full Name
Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
Background
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.
Synonyms
AMMECR1; Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1; AMME syndrome candidate gene 1 protein; Alport syndrome mental retardation midface hypoplasia and elliptocytosis chromosomal region gene 1; AMMECR 1; AMMECR1 protein; AMMERC1; OTTHUMP00000023851; Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 homolog (human); zgc:66100; zgc:85865

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