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 FLJ37543 gene product has been provisionally designated FLJ37543 pending further characterization.
Subcellular Location:
Secreted
SWISS:
Q2M2E5
Gene ID:
285668
Database links:
Entrez Gene: 285668 Human
SwissProt: Q2M2E5 Human
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