| Dataset | InterPro Predicted Protein Domain Annotations |
| Category | structural or functional annotations |
| Type | protein domain |
| Description | Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1|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] (NCBI Entrez Gene Database, 9949) |
| External Link | https://www.ebi.ac.uk/interpro/entry/IPR023473 |
| Similar Terms | |
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2 proteins predicted to have the AMMECR1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
