UPK3B (gene)

UPK3B is a gene that encodes the protein Uroplakin 3B in humans. This gene is located on chromosome 22q13.1 and spans approximately 15.6 kilobases. The protein encoded by this gene is a member of the uroplakin family, a group of integral membrane proteins that are major components of the urothelial plaques of mammalian bladder epithelium.

Function

The protein encoded by the UPK3B gene is a type of uroplakin, which are a group of proteins that make up the urothelial plaques on the surface of the bladder. These plaques are thought to provide a barrier against urine and may also be involved in specialized functions such as cell adhesion and signal transduction. Uroplakin 3B is thought to play a role in the formation of these plaques.

Clinical significance

Mutations in the UPK3B gene have been associated with a number of health conditions. For example, some studies have suggested a link between mutations in this gene and renal dysplasia, a condition characterized by abnormal development of the kidneys. However, more research is needed to fully understand the role of this gene in disease.

See also

• Uroplakin
• Renal dysplasia

References

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