TLL1
Template:Short description Template:Infobox gene Tolloid-like protein 1 is a protein that in humans is encoded by the TLL1 gene.[1][2]
This gene encodes an astacin-like zinc-dependent metalloprotease and is a subfamily member of the metzincin family. A similar protein in mice is required during heart development and specifically processes procollagen C-propeptides and chordin at similar cleavage sites.[2]
In clinical context, TLL1 was mostly associated with atrial septal defect in an autosomal dominant mode of inheritance of loss-of-function mutations.[3] However, functional studies have also linked its gain-of-function with mitral valve prolapse.[4]
References
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Further reading
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