TSPAN12 Antibody – Rabbit Polyclonal

TSPAN12: a multi-pass membrane protein. Member of the transmembrane 4 superfamily, also known as the tetraspanin family. Plays a central role in retinal vascularization by regulating norrin (NDP) signal transduction. Acts in concert with norrin (NDP) to promote FZD4 multimerization and subsequent activation of FZD4, leading to promote accumulation of beta-catenin (CTNNB1) and stimulate LEF/TCF-mediated transcriptional programs. Suprisingly, it only activate the norrin (NDP)-dependent activation of FZD4, while it does not activate the Wnt-dependent activation of FZD4, suggesting the existence of a Wnt-independent signaling that also promote accumulation the beta-catenin (CTNNB1). Acts as a regulator of membrane proteinases such as ADAM10 and MMP14/MT1-MMP. Activates ADAM10-dependent cleavage activity of amyloid precursor protein (APP). Activates MMP14/MT1-MMP-dependent cleavage activity. Defects in TSPAN12 are the cause of vitreoretinopathy exudative type 5 (EVR5). It is a disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. Twp isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; Receptor, misc.; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 7q31.31

Cellular Component: membrane; integral to plasma membrane; integral to membrane

Molecular Function: Wnt receptor activity

Biological Process: cell surface receptor linked signal transduction; angiogenesis; regulation of angiogenesis

Disease: Exudative Vitreoretinopathy 5