| Entrez Gene ID | 79663 |
|---|---|
| Official Gene Symbol | HSPBAP1 (GeneCards) |
| Full name | HSPB1 associated protein 1 |
| Location | 3q21.1 |
| Other ids | Vega : OTTHUMG00000159550 MIM : 608263 HGNC : HGNC:16389 Ensembl : ENSG00000169087 |
| Other names | PASS1 |
| Summary | This gene encodes a protein that binds to one of the small heat shock proteins, specifically hsp27. Hsp27 is involved with cell growth and differentiation. This encoded protein was found to be abnormally expressed in patients with intractable epilepsy, although how brain function is affected remains unknown. [provided by RefSeq, Sep 2011] |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 29153 | 79663 | HSPBAP1 | 3 | 122487519 | 122487519 | Autism Spectrum Disorders | PASM |