Which protein is affected in Angelman's syndrome
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Which protein is affected in Angelman's syndrome

[From: ] [author: ] [Date: 11-12-02] [Hit: ]
Several different genetic mechanisms can turn off (inactivate) or delete the UBE3A gene. Most cases of Angelman syndrome (about 70 percent) occur when a segment of the maternal chromosome 15 containing this gene is deleted. In another 11 percent of cases, Angelman syndrome results from mutations within the UBE3A gene itself. Most of these mutations lead to the production of an abnormally short, nonfunctional version of ubiquitin protein ligase E3A.......
I don't know where I found it but somehow I found that the protein is E6-AP. But about every site I went to they mentioned chromosome 15. I'm very confused so please clear this up for me!

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A loss of UBE3A gene (on chromosome 15) function in the brain likely causes many of the characteristic features of Angelman syndrome, a complex genetic disorder that primarily affects the nervous system. This loss of function results from a chromosomal change or gene mutation that affects the maternal copy of the gene.

Several different genetic mechanisms can turn off (inactivate) or delete the UBE3A gene. Most cases of Angelman syndrome (about 70 percent) occur when a segment of the maternal chromosome 15 containing this gene is deleted. In another 11 percent of cases, Angelman syndrome results from mutations within the UBE3A gene itself. Most of these mutations lead to the production of an abnormally short, nonfunctional version of ubiquitin protein ligase E3A.
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