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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| AMMECR1-20-RE | 20 (40 μL) | 200 μL |  |
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| AMMECR1-20-OR | 20 (40 μL) | 200 μL |  |
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| AMMECR1-20-GO | 20 (40 μL) | 200 μL |  |
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| AMMECR1-20-GR | 20 (40 μL) | 200 μL |  |
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| AMMECR1-20-AQ | 20 (40 μL) | 200 μL |  |
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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. [provided by RefSeq, Jan 2010]
Gene Symbol : AMMECR1
Gene Name : Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
Chromosome : CHR X: 110,440,232-110,194,185
Locus : Xq23
Alt. Genes : ZNF263
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