Gene Symbol | AMMECR1 |
Entrez Gene ID | 9949 |
Full Name | Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 |
Synonyms | AMMERC1,MFHIEN |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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, Jan 2010]. |
Disorder MIM: | |
Disorder Html: | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990 (3) |