Harmonizome 3.0

Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1

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]

Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis