| Entrez Gene ID | 23254 |
|---|---|
| Official Gene Symbol | KAZN (GeneCards) |
| Full name | kazrin, periplakin interacting protein |
| Location | 1p36.21 |
| Other ids | Vega : OTTHUMG00000002042 HGNC : HGNC:29173 Ensembl : ENSG00000189337 |
| Other names | KAZ |
| Summary | This gene encodes a protein that plays a role in desmosome assembly, cell adhesion, cytoskeletal organization, and epidermal differentiation. This protein co-localizes with desmoplakin and the cytolinker protein periplakin. In general, this protein localizes to the nucleus, desmosomes, cell membrane, and cortical actin-based structures. Some isoforms of this protein also associate with microtubules. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity has not been verified. [provided by RefSeq, Aug 2011] |
Found 5 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 2396 | 23254 | KAZN | 1 | 15154559 | 15154559 | Asymptomatic | HiSeq X Ten |
| 2651 | 23254 | KAZN | 1 | 15401128 | 15401128 | Cockayne syndrome | HiSeq X Ten |
| 2811 | 23254 | KAZN | 1 | 14976105 | 14976105 | Xeroderma Pigmentosum | HiSeq X Ten |
| 22443 | 23254 | KAZN | 1 | 15212245 | 15212245 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 24377 | 23254 | KAZN | 1 | 14959668 | 14959668 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |