EFEMP2
EGF containing fibulin extracellular matrix protein 2
Normal Function
Health Conditions Related to Genetic Changes
Cutis laxa
At least six variants (also known as mutations) in the EFEMP2 gene have been identified in people with cutis laxa. EFEMP2 variants cause a form of the disorder called autosomal recessive cutis laxa type 1B (ARCL1B), which is characterized by loose and sagging skin, a lung disease called emphysema, and severe abnormalities involving the heart and blood vessels.
Variants in the EFEMP2 gene likely prevent cells from producing any functional fibulin-4. Without this protein, elastic fibers cannot be assembled normally in the extracellular matrix. A shortage of normal elastic fibers weakens connective tissue in the skin, blood vessels, lungs, and other organs. These defects in connective tissue underlie the major features of cutis laxa.
More About This Health ConditionRelated Conditions
Cutis laxa
Health Conditions Related to Genetic Changes
At least six variants (also known as mutations) in the EFEMP2 gene have been identified in people with cutis laxa. EFEMP2 variants cause a form of the disorder called autosomal recessive cutis laxa type 1B (ARCL1B), which is characterized by loose and sagging skin, a lung disease called emphysema, and severe abnormalities involving the heart and blood vessels.
Variants in the EFEMP2 gene likely prevent cells from producing any functional fibulin-4. Without this protein, elastic fibers cannot be assembled normally in the extracellular matrix. A shortage of normal elastic fibers weakens connective tissue in the skin, blood vessels, lungs, and other organs. These defects in connective tissue underlie the major features of cutis laxa.