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.
