ASPH
ASPH
ASPH (Aspartate β-hydroxylase) is a protein that in humans is encoded by the ASPH gene. This protein is an enzyme that plays a crucial role in the biological processes of the human body.
Function
ASPH is an enzyme that catalyzes the hydroxylation of aspartyl and asparaginyl residues in certain proteins. This process is important for the proper functioning of the cells in the body. The ASPH enzyme is also involved in the calcium signaling pathway, which is essential for various cellular functions.
Clinical significance
Mutations in the ASPH gene have been associated with various medical conditions. For instance, a deficiency in ASPH can lead to congenital disorder of glycosylation, a group of metabolic disorders. Additionally, overexpression of ASPH has been linked to the progression of liver cancer and other types of cancer.
Research
Research on ASPH is ongoing, with scientists studying its role in various diseases and potential as a therapeutic target. For example, inhibiting the activity of ASPH has been suggested as a potential treatment for liver cancer.
See also
- Protein
- Gene
- Enzyme
- Hydroxylation
- Cell
- Calcium signaling
- Congenital disorder of glycosylation
- Cancer
- Liver cancer
External links
- Medical encyclopedia article on ASPH
- Wikipedia's article - ASPH
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