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.

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Disclaimer: The information provided here is not exhaustive by any means. Always consult your doctor or other qualified healthcare provider with any questions you may have regarding a medical condition, procedure, or treatment, whether it is a prescription medication, over-the-counter drug, vitamin, supplement, or herbal alternative.