AMMECR1 gene

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

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Alport syndrome with mental retardation, midface hypoplasia and elliptocytosis (ATS-MR): A X-linked contiguous gene deletion syndrome characterized by glomerulonephritis, sensorineural hearing loss, mental retardation, midface hypoplasia and elliptocytosis. [MIM:300194]

Cytogenetic Location: Xq23, which is the long (q) arm of the X chromosome at position 23

Molecular Location: base pairs 110,194,186 to 110,440,233 on the X chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: Xq23, which is the long (q) arm of the X chromosome at position 23
  • AMMERC1