| Entrez Gene ID | 10113 |
|---|---|
| Official Gene Symbol | PREB (GeneCards) |
| Full name | prolactin regulatory element binding |
| Location | 2p23.3 |
| Other ids | Vega : OTTHUMG00000097076 MIM : 606395 HGNC : HGNC:9356 Ensembl : ENSG00000138073 |
| Other names | SEC12 |
| Summary | This gene encodes a protein that specifically binds to a Pit1-binding element of the prolactin (PRL) promoter. This protein may act as a transcriptional regulator and is thought to be involved in some of the developmental abnormalities observed in patients with partial trisomy 2p. This gene overlaps the abhydrolase domain containing 1 (ABHD1) gene on the opposite strand. [provided by RefSeq, Jul 2008] |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 29468 | 10113 | PREB | 2 | 27354322 | 27354322 | Autism Spectrum Disorders | MiSeq |