| Entrez Gene ID | 2694 |
|---|---|
| Official Gene Symbol | GIF (GeneCards) |
| Full name | gastric intrinsic factor |
| Location | 11q12.1 |
| Other ids | Vega : OTTHUMG00000167399 MIM : 609342 HGNC : HGNC:4268 Ensembl : ENSG00000134812 |
| Other names | IF, INF, IFMH, TCN3 |
| Summary | This gene is a member of the cobalamin transport protein family. It encodes a glycoprotein secreted by parietal cells of the gastric mucosa and is required for adequate absorption of vitamin B12. Vitamin B12 is necessary for erythrocyte maturation and mutations in this gene may lead to congenital pernicious anemia. [provided by RefSeq, Jul 2008] |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 29667 | 2694 | GIF | 11 | 59603442 | 59603442 | Autism Spectrum Disorders | MiSeq |