Ectodysplasins

Ektodysplasiner

Engelsk definition

Transmembrane proteins belonging to the tumor necrosis factor superfamily that play an essential role in the normal development of several ectodermally derived organs. Several isoforms of the ectodysplasins exist due to multiple ALTERNATIVE SPLICING of the MRNA for the protein. The isoforms ectodysplasin A1 and ectodysplasin A2 are considered biologically active and each bind distinct ECTODYSPLASIN RECEPTORS. Genetic mutations that result in loss of function of ectodysplasin result in ECTODERMAL DYSPLASIA 1, ANHIDROTIC.

Svenska synonymer

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Engelska synonymer

Ectodysplasin-A Ectodysplasin A Ectodysplasin Ectodysplasin A, Isoform 2 Ectodysplasin A2 Ectodysplasin A, Isoform 1 Ectodysplasin A1