EFEMP2

EFEMP2

EFEMP2, also known as EGF-containing fibulin-like extracellular matrix protein 2, is a protein that in humans is encoded by the EFEMP2 gene. This protein is a member of the fibulin family, a group of extracellular matrix (ECM) proteins that play a crucial role in connective tissue organization and various cellular processes. EFEMP2 is involved in the structural organization of the ECM and has been implicated in a range of biological functions, including cell adhesion, migration, and the regulation of angiogenesis.

Function

EFEMP2 is an important component of the extracellular matrix, contributing to its formation and maintenance. It interacts with other ECM proteins such as fibronectin, elastin, and collagen, facilitating the assembly of the ECM and influencing cellular behaviors critical for tissue repair and development. The protein is also involved in the modulation of angiogenesis, the process through which new blood vessels form, which is essential for wound healing and the growth of tissues and organs.

Genetic and Clinical Aspects

Mutations in the EFEMP2 gene are associated with a rare genetic disorder known as autosomal dominant Cutis laxa, specifically type 2 (also referred to as ADCL2). This condition is characterized by a marked laxity of the skin, leading to premature aging, and in some cases, the development of systemic complications affecting the lungs, arteries, and gastrointestinal system. The mutations lead to abnormal synthesis or structure of the EFEMP2 protein, disrupting the integrity and function of the extracellular matrix.

Research and Potential Therapeutic Targets

Research into EFEMP2 has also highlighted its potential role in the pathogenesis of certain cancers and fibrotic diseases. Its involvement in angiogenesis and ECM remodeling makes it a candidate for therapeutic targeting in diseases where these processes are dysregulated. However, further research is needed to fully understand its mechanisms of action and to develop effective strategies for targeting EFEMP2 in clinical settings.

See Also

• Fibulin
• Extracellular matrix
• Angiogenesis
• Cutis laxa

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