PVRL1

PVRL1 (Poliovirus Receptor-Related 1), also known as Nectin-1 and CD111 (Cluster of Differentiation 111), is a human gene. The protein encoded by this gene is a cell adhesion molecule involved in the formation of adherens junctions. It is also a receptor for certain viruses, including herpes simplex virus and pseudorabies virus.

Function[edit | edit source]

The PVRL1 gene provides instructions for making a protein called nectin-1. This protein is found in many types of cells throughout the body, where it helps cells stick to one another (cell adhesion) and form structures called adherens junctions. Adherens junctions are necessary for the formation and maintenance of tissues and organs. Nectin-1 also plays a role in the movement of cells (cell migration) and in the process by which cells mature to carry out specific functions (cell differentiation).

Clinical significance[edit | edit source]

Mutations in the PVRL1 gene have been associated with Cleft lip and palate/ectodermal dysplasia syndrome (CLPED1), a condition characterized by cleft lip and/or palate and abnormalities of the skin, hair, and nails. The PVRL1 gene mutations that cause CLPED1 lead to the production of an abnormally short, nonfunctional nectin-1 protein. Without functional nectin-1, cells cannot stick to one another properly, leading to the signs and symptoms of CLPED1.

Interactions[edit | edit source]

PVRL1 has been shown to interact with:

References[edit | edit source]

External links[edit | edit source]

PVRL1 at NCBI
PVRL1 at Genetics Home Reference

PVRL1 Resources
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