Human down-regulated in multiple cancers-1: human c17orf28 orthologs 1, 2, and 3

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Human c17orf28 orthologs 1, 2, and 3

In the other diseases in this group do not know the exact function of proteins affected; however there is evidence that his- suggests a gain of function of RNA carriers for the SCA8 expansion and SCA10, similar to what occurs in the DM1 and DM2. (Esteva 2007, 86)

There are tri-amplification GCG segments producing lar- risks of genes whose amino acid alanine mutations cause different diseases, in the infantile spasm syndrome, are found work affected the ARX gene, OMIM 308350; in Cleidocranial dysplasia is the Cbfa1 gene, OMIM 119600; in the syndrome of epicanthus inversus type 2 is the FOXL2 gene, OMIM 110100; in hand-foot syndrome and genital is the HOXA13 gene, OMIM 142959; in the Syndactyly is the HOXD13 gene, OMIM Holoprosencephaly 142989 and 5 it is the ZIC2 gene, OMIM 603 073. (Alam 2008, 23)

However, in this group, the amplifications are not the only cause of the disease, but displayed as a mutation from a group to find possible mutations families where affected cases appear. (Dhooge 2008, 354)

Expansion polyalanine segmentsprobably sa protein aggregation, the effect to end like aggregations caused by polyglutamine segments is the cell death. (Denzin 2005, 28)

It has also been observed segment unstable than 24 base pairs in the PRNP gene in some families where the disease segregates. (Davidson 2005, 187)

The presence of more 5 repetitions confers susceptibility to this disease, OMIM 176640. The discovery of unexpected mutations tables led to their massive search of genes hereditary diseases associated with complex. (Tromp 2005, 665)

The phenomenon was unsolved mystery that came to understand it was noted that the inherent instability to these mutations in most cases, caused the amplification of the segment involved (often contractions occur). (Creswell 2007, 28)

It is now known that people ...