C21orf59

C21orf59 is a protein of unknown function. It is of interest in part for its association with various diseases. It has been found in high levels in the bone marrow of patients with a negative prognosis of acute myeloid leukemia and an abnormal karyotype. Male Alzheimer's patients have shown a decrease in expression of C21orf59 in their blood cells. The C21orf59 gene lies within the critical region of Down Syndrome. There are no clear paralogs in humans, but the gene has homologues widely conserved among animals, fungi, and algae.

Gene

C21orf59 is a gene found on the 21st chromosome at 21q22.1. A total of thirteen splice variants have been found, but only eleven protein coding ones. The most common form of C21orf59 mRNA has 1427 base pairs broken into seven exons. Its closest neighbors on the chromosome are TCP10L, FAM176C, LOC100506185, OR7E23P, and SYNJ1.

Gene Expression

The C21orf59 primary sequence is found in high quantity in most tissues. Some tissues with notable less expression are the ganglions, the heart, and the liver. It is suspected C21orf59 is found in the brain early in development due to the two achaete-scute complex homologue transcription factor binding sites found in the promoter.