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 FAM53C gene product has been provisionally designated FAM53C pending further characterization.
Similarity:
Belongs to the FAM53 family.
SWISS:
Q9NYF3
Gene ID:
51307
Database links:
Entrez Gene: 608692 Dog
Entrez Gene: 100062325 Horse
Entrez Gene: 51307 Human
Entrez Gene: 66306 Mouse
Entrez Gene: 100515714 Pig
Entrez Gene: 685405 Rat
Entrez Gene: 73965 Xenopus laevis
Entrez Gene: 100380061 Xenopus tropicalis
Omim: 609372 Human
SwissProt: Q29RM2 Cow
SwissProt: Q9NYF3 Human
SwissProt: Q8BXQ8 Mouse
Unigene: 728171 Human
Unigene: 29424 Mouse
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