What gene is affected in prader willi syndrome?
The gene affected in Prader-Willi syndrome is located on chromosome 15q11-q13. This region contains several imprinted genes, which means that they are expressed differently depending on whether they are inherited from the mother or the father. In Prader-Willi syndrome, the genes that are normally expressed from the father's copy of chromosome 15 are not expressed, while the genes that are normally expressed from the mother's copy of chromosome 15 are expressed normally.
The specific gene that is responsible for Prader-Willi syndrome has not yet been identified. However, several candidate genes have been proposed, including:
* SNRPN (small nuclear ribonucleoprotein polypeptide N): This gene encodes a protein that is involved in the assembly of spliceosomes, which are responsible for removing introns from pre-messenger RNA.
* MAGEL2 (maternally expressed gene 2): This gene encodes a protein that is involved in the regulation of cell growth and differentiation.
* NDN (necdin): This gene encodes a protein that is involved in the regulation of neuronal migration and differentiation.
Further research is needed to identify the specific gene or genes that are responsible for Prader-Willi syndrome.
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