AMMECR1 Proteins

Protein Information

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

6230420G18Rik; Alport syndrome mental retardation midface hypoplasia and elliptocytosis chromosomal region protein 1; Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1; Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 homolog; AMME syndrome candidate gene 1 protein; AMME syndrome candidate gene 1 protein homolog; AMMECR1; AMMERC1