C19orf54 is a 351 amino acid protein that exists as two alternatively spliced isoforms and are encoded by a gene located on human chromosome 19. Chromosome 19 consists of approximately 63 million bases and makes up over 2% of human genomic DNA. Chromosome 19 includes a diversity of interesting genes and is recognized for having the greatest gene density of the human chromosomes. It is the genetic home for a number of immunoglobulin superfamily members including the killer cell and leukocyte Ig-like receptors, a number of ICAMs, the CEACAM and PSG family, and Fc? receptors. Key genes for eye color and hair color also map to chromosome 19. Peutz-Jeghers syndrome, spinocerebellar ataxia type 6, the stroke disorder CADASIL, hypercholesterolemia and insulin-dependent diabetes have been linked to chromosome 19. Translocations with chromosome 19 and chromosome 14 can be seen in some lymphoproliferative disorders and typically involve the proto-oncogene BCL3.

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