What is Angelman syndrome caused by

Causes as is a genetic disorder that occurs when there is a mutation or.[6] most of the time, it is due to a deletion or mutation of the ube3a gene on that chromosome.It is a housekeeping gene, responsible for the basic maintenance of cells.Angelman syndrome is a genetic disease caused by alterations of the ube3a, located on chromosome 15.Our findings will change the lives of people with angelman syndrome and, potentially, millions more who have related disorders like autism and alzheimer's disease.

Most cases of angelman syndrome are caused by the child not getting a copy of the ube3a gene from its mother, or the gene not working.Ube3a is a ubiquitin ligase whose function and targets relevant to as are still unknown.In the brain, only the maternal copy is switched on.Causes of angelman syndrome the disorder is caused by the lack of presence of the ube3a gene or its inactivation.Angelman syndrome is due to a lack of function of part of chromosome 15, typically due to a new mutation rather than one inherited from a person's parents.

Angelman syndrome is a rare, complex neurodevelopmental condition that primarily affects your nervous system.It can cause various developmental delays, including lower mobility, speech difficulties, and hyperactivity.The physician harry angelman first delineated the syndrome in 1965, when he described several children in his practice as having flat heads, jerky movements, protruding tongues, and bouts of laughter.Originating from your brain, it controls your movements, thoughts, behaviors and automatic responses to the world around you.What causes angelman syndrome humans have 46 chromosomes inside every cell in their body.

The name of this gene is ube3a.