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-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome. An important paralog of this gene is AMMECR1L.