C15orf48

C15orf48 is a gene that encodes a protein in humans. The gene is located on chromosome 15 and is also known as Chromosome 15 Open Reading Frame 48. The function of the C15orf48 protein is currently unknown, but it is believed to play a role in cellular processes due to its presence in the cell nucleus.

Function

The exact function of the C15orf48 protein is not yet fully understood. However, it is known to be expressed in several tissues, including the brain, heart, and liver. This suggests that it may play a role in the normal functioning of these organs. Further research is needed to determine the specific role of this protein in the body.

Gene

The C15orf48 gene is located on the q arm of chromosome 15 at position 21.1. It spans approximately 10,000 base pairs and consists of 3 exons. The C15orf48 gene produces a 1.4 kb mRNA transcript and encodes a protein of 131 amino acids.

Clinical significance

While the function of the C15orf48 protein is not yet fully understood, mutations in this gene have been associated with several diseases. For example, a study found that a mutation in the C15orf48 gene was associated with an increased risk of Alzheimer's disease. However, more research is needed to confirm these findings and to understand the role of this gene in disease.

See also

• Chromosome 15 (human)
• Open reading frame
• Gene