FAM173B is a 233 amino acid single-pass membrane protein that is encoded by a gene that maps to human chromosome 5, which makes up about 6% of human genomic DNA and contains 181 million base pairs encoding around 1,000 genes. 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.
ATP synthase subunit C lysine N-methyltransferase; family with sequence similarity 173, member B; hFAM173B; Protein N-lysine methyltransferase FAM173B
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