Database of mammalian genes
Home

Home Search Browse Statistics User guide FAQs Links Questions Contribute Download


Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for AMMECR1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID9949
Official gene symbolAMMECR1
Full nameAlport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
Aliases,AMMERC1,
Gene summaryThe 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]
LocationChromosome: X   Locus: Xq22.3
Gene position109683461 - 109437414  Map Viewer
Gene orientationminus
Gene size246048 bp
Gene sequence
OMIM ID300195