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Gene Review

AMMECR1  -  Alport syndrome, mental retardation,...

Homo sapiens

Synonyms: AMME syndrome candidate gene 1 protein
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Disease relevance of AMMECR1

  • In our effort to isolate additional genes from the deleted region, we have identified the gene named AMMECR1 (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis chromosomal region gene 1) [1].

High impact information on AMMECR1

  • Exon 2 of AMMECR1 encodes a domain consisting of six amino acids identically conserved throughout the course of evolution and whose function is as yet unknown [1].
  • The murine and human orthologs show 96.5% (FACL4) and 95.2% (AMMECR1) identity at the amino acid level, with conservation of the respective putative subcellular localization signals [2].


  1. Identification and characterization of a highly conserved protein absent in the Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E) contiguous gene deletion syndrome (AMME). Vitelli, F., Piccini, M., Caroli, F., Franco, B., Malandrini, A., Pober, B., Jonsson, J., Sorrentino, V., Renieri, A. Genomics (1999) [Pubmed]
  2. Identification and characterization of mouse orthologs of the AMMECR1 and FACL4 genes deleted in AMME syndrome: orthology of Xq22.3 and MmuXF1-F3. Vitelli, F., Meloni, I., Fineschi, S., Favara, F., Tiziana Storlazzi, C., Rocchi, M., Renieri, A. Cytogenet. Cell Genet. (2000) [Pubmed]
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