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 C5orf36 gene product has been provisionally designated C5orf36 pending further characterization.
SWISS:
O94914
Gene ID:
285600
Database links:
Entrez Gene: 285600 Human
SwissProt: O94914 Human
SwissProt: Q8IV33 Human
Unigene: 425123 Human
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