C19orf26
c19orf26: A Gene with Intriguing Roles in Health and Disease
Description
c19orf26 (chromosome 19 open reading frame 26) is a human gene located on chromosome 19. It encodes a protein of 147 amino acids, which is involved in various cellular processes, including DNA damage repair, cell growth regulation, and apoptosis. c19orf26 is expressed in a wide range of tissues, including the brain, immune cells, and reproductive organs.
Associated Diseases
Mutations or alterations in the c19orf26 gene have been linked to several diseases and conditions:
- Spinocerebellar ataxia type 36 (SCA36): A rare neurodegenerative disorder characterized by progressive loss of coordination, speech, and eye movements.
- Infertility: Mutations in c19orf26 have been associated with impaired sperm production and female infertility.
- Immune deficiencies: Certain mutations in c19orf26 can lead to defects in immune function, increasing susceptibility to infections.
- Cancer: Aberrant expression of c19orf26 has been observed in some types of cancer, including breast cancer and lung cancer. Its role in cancer development and progression is still being explored.
Did you Know ?
Approximately 1 in 100,000 people worldwide have a mutation in the c19orf26 gene that causes SCA36. While this is a relatively rare condition, it highlights the significant impact that mutations in this gene can have on human health.
