| Entrez Gene ID | 2036 |
|---|---|
| Official Gene Symbol | EPB41L1 (GeneCards) |
| Full name | erythrocyte membrane protein band 4.1 like 1 |
| Location | 20q11.23 |
| Other ids | Vega : OTTHUMG00000032378 MIM : 602879 HGNC : HGNC:3378 Ensembl : ENSG00000088367 |
| Other names | 4.1N, MRD11 |
| Summary | Erythrocyte membrane protein band 4.1 (EPB41) is a multifunctional protein that mediates interactions between the erythrocyte cytoskeleton and the overlying plasma membrane. The encoded protein binds and stabilizes D2 and D3 dopamine receptors at the neuronal plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015] |
Found 2 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 28631 | 2036 | EPB41L1 | 20 | 34691511 | 34691511 | Asymptomatic | Single cell Sequencing Cell cloning |
| 29150 | 2036 | EPB41L1 | 20 | 34773214 | 34773214 | Autism Spectrum Disorders | Single cell Sequencing Cell cloning PASM |