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 epidermal-dermal interactions. This protein is important for the integrity of skin and renal epithelia. Mutations in this gene are associated with Fraser syndrome.
Function
calcium ion binding;
Synonyms
FREM2; FRAS1 related extracellular matrix protein 2; FRAS1-related extracellular matrix protein 2; DKFZp686J0811; ECM3 homolog; DKFZp781I048;
Citations
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