Structural highlights
Disease
[TLL1_HUMAN] Defects in TLL1 are the cause of atrial septal defect type 6 (ASD6) [MIM:613087]. A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria.[1]
Function
[TLL1_HUMAN] Protease which processes procollagen C-propeptides, such as chordin, pro-biglycan and pro-lysyl oxidase. Required for the embryonic development. Predominant protease, which in the development, influences dorsal-ventral patterning and skeletogenesis.
Evolutionary Conservation
Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.
References
- ↑ Stanczak P, Witecka J, Szydlo A, Gutmajster E, Lisik M, Augusciak-Duma A, Tarnowski M, Czekaj T, Czekaj H, Sieron AL. Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD. Eur J Hum Genet. 2009 Mar;17(3):344-51. doi: 10.1038/ejhg.2008.175. Epub 2008 Oct, 1. PMID:18830233 doi:10.1038/ejhg.2008.175
