Disease-gene associations mined from literature

Literature associating ELN and autosomal dominant cutis laxa 1

ELN [ENSP00000351807]

Tropoelastin; Major structural protein of tissues such as aorta and nuchal ligament, which must expand rapidly and recover completely. Molecular determinant of the late arterial morphogenesis, stabilizing arterial structure by regulating proliferation and organization of vascular smooth muscle (By similarity).

Synonyms:  ELN,  A7L3I8,  B3KRT8,  E7EN51,  E7EN65 ...

Linkouts:  STRING  Pharos  UniProt