| Modification Notes |
As the smallest human chromosome, chromosome 21 spans just 47 million nucleotides, representing 1.5% of total genetic material in the human genome. Containing between 200 to 400 genes, chromosome 21 has been linked to genetic disorders such as Alzheimer’s disease, Amyotrotrpic lateral sclerosis, Down syndrome and homocystinuria. Translocations of genetic material between other chromosomes and genes residing on chromosome 21 have been associated with several types of cancer, such as acute lymphoblastic leukemia and acute myeloid leukemia. The gene encoding BC-1514 (B lymphocyte activation-related protein BC-1514) contains 1,514 nucleotides and encodes a 130 amino acid protein that was first identified by its expression in human tonsil tissue. The chromosomal location of BC-1514 is very close to a genetic region that is implicated in Alzheimer’s disease, namely 21q21. With highest expression in bone marrow, it is suggested that BC-1514 may play a role in B-cell signal transduction. |
