| Entrez Gene ID | 7092 |
|---|---|
| Official Gene Symbol | TLL1 (GeneCards) |
| Full name | tolloid like 1 |
| Location | 4q32.3 |
| Other ids | Vega : OTTHUMG00000161112 MIM : 606742 HGNC : HGNC:11843 Ensembl : ENSG00000038295 |
| Other names | TLL, ASD6 |
| 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. [provided by RefSeq, Mar 2011] |
Found 10 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 5983 | 7092 | TLL1 | 4 | 167064302 | 167064302 | Asymptomatic | HiSeq X Ten |
| 6188 | 7092 | TLL1 | 4 | 166976634 | 166976634 | Asymptomatic | HiSeq X Ten |
| 6417 | 7092 | TLL1 | 4 | 167485330 | 167485330 | Asymptomatic | HiSeq X Ten |
| 6931 | 7092 | TLL1 | 4 | 166941866 | 166941866 | Asymptomatic | HiSeq X Ten |
| 7000 | 7092 | TLL1 | 4 | 167391093 | 167391093 | Asymptomatic | HiSeq X Ten |
| 7104 | 7092 | TLL1 | 4 | 167199176 | 167199176 | Cockayne syndrome | HiSeq X Ten |
| 7138 | 7092 | TLL1 | 4 | 167638225 | 167638225 | Cockayne syndrome | HiSeq X Ten |
| 7270 | 7092 | TLL1 | 4 | 167067280 | 167067280 | Cockayne syndrome | HiSeq X Ten |
| 7465 | 7092 | TLL1 | 4 | 167076770 | 167076770 | Xeroderma Pigmentosum | HiSeq X Ten |
| 25647 | 7092 | TLL1 | 4 | 167440032 | 167440032 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |