| Entrez gene ID | | 29430 |
|
| Official gene symbol | | Hap1 |
|
| Full name | | huntingtin-associated protein 1 |
|
| Aliases | | - |
|
| Gene summary | | Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that is homologous to the human huntingtin-associated protein 1. The human protein interacts with huntingtin, with two cytoskeletal proteins (dynactin and pericentriolar autoantigen protein 1), and with a hepatocyte growth factor-regulated tyrosine kinase substrate. The interactions with cytoskeletal proteins and a kinase substrate suggest a role for this protein in vesicular trafficking or organelle transport. Two transcripts encoding different isoforms have been identified. [provided by RefSeq] |
|
| Location | | Chromosome: 10 Locus: 10q32.1 |
|
| Gene position | | 89285395 - 89293630 Map Viewer |
|
| Gene orientation | | minus |
|
| Gene size | | 8236 bp |
|
| Gene sequence |
| |
|
