HS1BP3
HS1BP3 or HS1-binding protein 3 is a protein that in humans is encoded by the HS1BP3 gene. This protein is involved in various cellular processes, including cell signaling, apoptosis, and cell migration.
Function[edit | edit source]
HS1BP3 is a binding protein that interacts with the HS1 protein, a key component of the immune system. This interaction is believed to play a role in the regulation of lymphocyte activation and proliferation.
HS1BP3 also has a role in apoptosis, or programmed cell death. It is thought to regulate the process by interacting with caspase enzymes, which are responsible for initiating apoptosis.
Clinical significance[edit | edit source]
Mutations in the HS1BP3 gene have been associated with various medical conditions. For example, a mutation in this gene has been linked to autosomal recessive congenital cataract, a condition characterized by clouding of the lens of the eye present at birth or shortly thereafter.
See also[edit | edit source]
References[edit | edit source]
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