Gene: TLL1

Alternate names for this Gene: ASD6|TLL

Gene Summary: 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.

Gene is located in Chromosome: 4

Location in Chromosome : 4q32.3

Description of this Gene: tolloid like 1

Type of Gene: protein-coding

rs137852951 in TLL1 gene and Atrial Septal Defect 6 PMID 18830233 2009 Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD.

rs7674118 in TLL1 gene and Glomerular Filtration Rate PMID 26420894 2016 Genetic loci associated with renal function measures and chronic kidney disease in children: the Pediatric Investigation for Genetic Factors Linked with Renal Progression Consortium.

rs7674118 in TLL1 gene and Kidney Failure, Chronic PMID 26420894 2016 Genetic loci associated with renal function measures and chronic kidney disease in children: the Pediatric Investigation for Genetic Factors Linked with Renal Progression Consortium.

rs17047200 in TLL1 gene and Liver carcinoma PMID 28163062 2017 We found a strong association between the SNP rs17047200, located within the intron of the tolloid like 1 gene (TLL1) on chromosome 4, and development of HCC; there was a genome-wide level of significance when the results of the GWAS and replication study were combined (odds ratio, 2.37; P = 2.66 × 10<sup>-8</sup>).

rs873242 in TLL1 gene and Mean blood pressure PMID 22510845 2012 Pathway-based genome-wide association analysis of coronary heart disease identifies biologically important gene sets.

rs6812849 in TLL1 gene and Post-Traumatic Stress Disorder PMID 23726511 2013 Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder.