背景
This gene encodes an integral membrane protein containing numerous CSPG (chondroitin
sulfate proteoglycan element) repeats and Calx-beta domains. The encoded protein localizes
to the basement membrane, forming a ternary complex that plays a role in epidermaldermal interactions. This protein is important for the integrity of skin and renal epithelia.
Mutations in this gene are associated with Fraser syndrome.
