Aliases for AMMECR1 Gene
External Ids for AMMECR1 Gene
Previous GeneCards Identifiers for AMMECR1 Gene
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]
GeneCards Summary for AMMECR1 Gene
AMMECR1 (Alport Syndrome, Mental Retardation, Midface Hypoplasia And Elliptocytosis Chromosomal Region Gene 1) is a Protein Coding gene. Diseases associated with AMMECR1 include Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis and Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis. An important paralog of this gene is AMMECR1L.