TLL1 Back

tolloid-like 1

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NCBI Description of TLL1

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.

Community Annotation of TLL1 Add / Edit TLL1: Annotations

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Figure notes

• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


TLL1 is highly significantly mutated in
TLL1 is significantly mutated in
TLL1 is near significance in

Click on a tumor type to see its full list of significant genes.

Data details

Mutation list for TLL1