Entrez gene ID | | 9949 |
Official gene symbol | | AMMECR1 |
Full name | | Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 |
Aliases | | ,AMMERC1, |
Gene summary | | 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] |
Location | | Chromosome: X Locus: Xq22.3 |
Gene position | | 109683461 - 109437414 Map Viewer |
Gene orientation | | minus |
Gene size | | 246048 bp |
Gene sequence |
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OMIM ID | | 300195 |
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