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. [provided by RefSeq, Jan 2010]

Description

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

Protein family

-

Chromosome

X:q23 (109437414 - 109683461)

Ensembl ID

ENSG00000101935  (ver. 69.37)

Orthologs

Mouse Ammecr1: ENSMUSG00000042225

Human splice variants
Mouse splice variants