FAM160B2
FAM160B2: A Gene with Multifaceted Roles in Human Health
Description
FAM160B2 (Family with Sequence Similarity 160, Member B2) is a protein-coding gene located on chromosome 11q13.1. It encodes a protein known as FAM160B2 or Cajal-body-specific protein 1 (CASP1). CASP1 is predominantly expressed in Cajal bodies, which are small nuclear organelles involved in various aspects of RNA metabolism, including RNA processing, splicing, and ribosome biogenesis.
Associated Diseases
Mutations in the FAM160B2 gene have been linked to several human diseases, including:
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Cartilage-hair hypoplasia: A rare genetic disorder characterized by short stature, sparse hair, and joint problems.
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Myelodysplastic syndromes (MDS): A group of blood disorders characterized by abnormal blood cell production in the bone marrow.
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Bone marrow failure syndromes: A range of disorders where the bone marrow fails to produce sufficient blood cells.
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Leukemia: A type of cancer that affects blood-forming tissues.
Did you Know ?
According to the National Institutes of Health (NIH), mutations in the FAM160B2 gene account for approximately 10% of cases of cartilage-hair hypoplasia.
