Aliases for TLL1 Gene
External Ids for TLL1 Gene
Previous GeneCards Identifiers for TLL1 Gene
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]
GeneCards Summary for TLL1 Gene
TLL1 (Tolloid Like 1) is a Protein Coding gene. Diseases associated with TLL1 include Atrial Septal Defect 6 and Atrial Septal Defect Ostium Primum. Among its related pathways are Collagen biosynthesis and modifying enzymes and Degradation of the extracellular matrix. GO annotations related to this gene include calcium ion binding and metallopeptidase activity. An important paralog of this gene is MFRP.
UniProtKB/Swiss-Prot for TLL1 Gene
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.