Reactivities: | Human |
Presku: | AAP62371 |
Size: | 100ug |
Weight: | 31kDa |
Gene: | 9949 |
Format: | Lyophilized powder |
Target: | 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. |
Alternative names: | AMMERC1 |