Description
Product Characteristics:
With 181 million base pairs encoding around 1,000 genes, chromosome 5 is about 6 % of human genomic DNA. It is associated with Cockayne syndrome through the ERCC8 gene and familial adenomatous polyposis through the adenomatous polyposis coli (APC) tumor suppressor gene. Treacher Collins syndrome is also chromosome 5 associated and is caused by insertions or deletions within the TCOF1 gene. Deletion of the p arm of chromosome 5 leads to Cri du chat syndrome. Deletion of 5q or chromosome 5 altogether is common in therapy-related acute myelogenous leukemias and myelodysplastic syndrome. The LOC285636 gene product has been provisionally designated LOC285636 pending further characterization.
Synonyms: Chromosome 5 open reading frame 51, Hypothetical protein LOC285636, UPF0600 protein C5orf51, CE051_HUMAN.
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