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C5orf48 (chromosome 5 open reading frame 48), also known as FLJ27505, MGC163367 or MGC163369, is a 134 amino acid protein. Encoded by a gene that maps to human chromosome 5q23.2, C5orf48 is linked to Autosomal dominant leukodystrophy (ADLD). Chromosome 5 makes up approximately 6 % of the human genome and contains 181 million base pairs, which encode 1,000 genes. Chromosome 5 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 caused by insertions or deletions within the TCOF1 gene and is also associated with chromosome 5. Deletion of 5q or chromosome 5 altogether is common in therapy-related acute myelogenous leukemias and myelodysplastic syndrome.
Synonyms: C5orf48, CE048_HUMAN, Chromosome 5 open reading frame 48, Uncharacterized protein C5orf48.