KIAA0754
KIAA0754: Unraveling the Enigma of a Multifaceted Protein
Description:
KIAA0754, also known as C1orf193, is a protein encoded by the KIAA0754 gene located on chromosome 1p36.13. It belongs to the ZNF385 domain-containing protein family and plays a crucial role in various cellular processes, including regulation of cell cycle, chromatin organization, and DNA repair.
Associated Diseases:
- Osteoporosis: KIAA0754 has been associated with an increased risk of osteoporosis, a condition characterized by reduced bone density and increased susceptibility to fractures. Studies have shown that individuals with certain variations in the KIAA0754 gene have a higher risk of developing osteoporosis.
- Alzheimer's disease: KIAA0754 has been implicated in the pathogenesis of Alzheimer's disease, a neurodegenerative disorder characterized by cognitive decline and memory impairment. Research suggests that KIAA0754 may play a role in regulating the formation and clearance of amyloid-beta plaques, which are associated with Alzheimer's disease.
- Ovarian cancer: Reduced levels of KIAA0754 have been observed in ovarian cancer cells. Studies indicate that KIAA0754 may suppress ovarian cancer growth and progression by inhibiting cell proliferation and promoting apoptosis (programmed cell death).
- Other diseases: KIAA0754 has also been linked to rheumatoid arthritis, coronary artery disease, and inflammatory bowel disease, although further research is needed to establish its precise role in these conditions.
Did you Know ?
A study published in the journal "Osteoporosis International" found that individuals with a specific genetic variation in the KIAA0754 gene had a 27% higher risk of developing osteoporosis compared to those without the variation.
