Family

EGF-containing fibulin-like extracellular matrix protein 2 (IPR026824)

Short name: Efemp2

Family relationships

None.

Description

This entry represents EGF-containing fibulin-like extracellular matrix protein 2 (Efemp2), also known as fibulin-4. Efemp2 binds to tropoelastin and may play an important role in the assembly of elastic fibres during development [PMID: 17324935]. Defects in Efemp2 cause autosomal recessive cutis laxa, an heterogeneous group of connective tissue disorders characterised by cutaneous abnormalities and variable systemic manifestations such as loose skin. In addition to skin, internal organs enriched in elastic fibres, such as the lung and the arteries, are also affected [PMID: 16685658, PMID: 17937443, PMID: 19664000].

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PANTHER