TLL1 gene

From NCBI 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]

From UniProt:

From NCBI Gene:

• Atrial septal defect 6

From UniProt:

Atrial septal defect 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. [MIM:613087]

Cytogenetic Location: 4q32.3, which is the long (q) arm of chromosome 4 at position 32.3

Molecular Location: base pairs 165,873,238 to 166,105,178 on chromosome 4 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

• ASD6
• TLL