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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.
Gene Name: | Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 |
Synonyms: | AMMECR1, AMMERC1 |
Target Sequences: | NM_015365 NP_056180.1 Q9Y4X0 |
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