AMMECR1 Back

Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region, gene 1

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NCBI Description of AMMECR1
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.

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

AMMECR1 is highly significantly mutated in
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AMMECR1 is significantly mutated in
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AMMECR1 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for AMMECR1