Tolloid Like Protein 1 (TLL1) ELISA Kit for Cat

This gene encodes an astacin-like, zinc-dependent, metalloprotease that belongs to the peptidase M12A family. This protease processes procollagen C-propeptides, such as chordin, pro-biglycan and pro-lysyl oxidase. Studies in mice suggest that this gene plays multiple roles in the development of mammalian heart, and is essential for the formation of the interventricular septum. Allelic variants of this gene are associated with atrial septal defect type 6. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

TLL1: 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. Defects in TLL1 are the cause of atrial septal defect type 6 (ASD6). 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. Belongs to the peptidase M12A family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 3.4.24.-; Secreted, signal peptide; Protease; Secreted

Chromosomal Location of Human Ortholog: 4q32-q33

Cellular Component: extracellular region

Molecular Function: collagen binding; zinc ion binding; metalloendopeptidase activity; calcium ion binding

Biological Process: extracellular matrix disassembly; extracellular matrix organization and biogenesis; cell differentiation; proteolysis; skeletal development

Disease: Atrial Septal Defect 6