| Entrez Gene ID | 56255 |
|---|---|
| Official Gene Symbol | TMX4 (GeneCards) |
| Full name | thioredoxin related transmembrane protein 4 |
| Location | 20p12.3 |
| Other ids | Vega : OTTHUMG00000031843 MIM : 616766 HGNC : HGNC:25237 Ensembl : ENSG00000125827 |
| Other names | PDIA14, TXNDC13, DJ971N18.2 |
| Summary | This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, one transmembrane domain and C-terminal ASP/GLU-rich calcium binding domain. Unlike most members of this gene family, it lacks a C-terminal ER-retention sequence. The encoded protein has been shown to have reductase activity in vitro. [provided by RefSeq, Jan 2017] |
Found 3 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 21366 | 56255 | TMX4 | 20 | 8003919 | 8003919 | Asymptomatic | HiSeq X Ten |
| 21473 | 56255 | TMX4 | 20 | 8097699 | 8097699 | Cockayne syndrome | HiSeq X Ten |
| 21477 | 56255 | TMX4 | 20 | 8096823 | 8096823 | Cockayne syndrome | HiSeq X Ten |