總結(jié) |
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 deletionsyndrome, the AMME complex (Alport syndrome, mental retardation,midface hypoplasia, and elliptocytosis). Alternatively splicedtranscript variants encoding different isoforms have been found forthis gene.
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