| ncRNA Symbol: | AMMECR1 | | Full Name: | Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 | | Category: | mRNA | | Synonyms: | AMMERC1|MFHIEN | | Chromosome: | chrX | | Strand: | - | | Coordinate: | | Start Site(bp): | 110194186 | End Site(bp): | 110440233 | | | 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, Jan 2010] | | External Links: | |
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