| Entrez Gene ID | 2549 |
|---|---|
| Official Gene Symbol | GAB1 (GeneCards) |
| Full name | GRB2 associated binding protein 1 |
| Location | 4q31.21 |
| Other ids | Vega : OTTHUMG00000161432 MIM : 604439 HGNC : HGNC:4066 Ensembl : ENSG00000109458 |
| Other names | DFNB26 |
| Summary | The protein encoded by this gene is a member of the IRS1-like multisubstrate docking protein family. It is an important mediator of branching tubulogenesis and plays a central role in cellular growth response, transformation and apoptosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 29274 | 2549 | GAB1 | 4 | 144258315 | 144258315 | Autism Spectrum Disorders | PASM |