C1orf228
C1orf228: A Gene with Emerging Roles in Health and Disease
Description
C1orf228 (Chromosome 1 Open Reading Frame 228) is a gene located on chromosome 1 in humans. It encodes a protein of 657 amino acids known as Telomerase Cajal Body Protein 1 (TCAB1). TCAB1 is involved in various cellular processes, including telomere maintenance, Cajal body formation, and gene regulation.
Associated Diseases
Mutations in C1orf228 have been linked to several human diseases, including:
- Dyskeratosis Congenita (DC): A genetic disorder characterized by premature aging, bone marrow failure, and increased risk of cancer.
- Myelodysplastic Syndrome (MDS): A type of bone marrow disorder that can lead to anemia, infections, and leukemia.
- Acute Myeloid Leukemia (AML): A type of cancer that starts in the bone marrow and affects white blood cells.
- Pancreatic Cancer: Studies have suggested an association between C1orf228 mutations and the development of pancreatic cancer.
Did you Know ?
- Approximately 1 in 850 individuals carry a mutation in the C1orf228 gene.
