Cromossoma 13
O cromossoma 13 é um dos 23 pares de cromossomas do cariótipo humano.
Genes
| Gene | Descrição |
|---|---|
| ATP7B | ATPase, Cu++ transporting, beta polypeptide (Wilson disease) |
| BRCA2 | breast cancer 2, early onset |
| CARKD | Carbohydrate Kinase Domain Containing Protein (Unknown Function) |
| EDNRB | endothelin receptor type B |
| GJB2 | gap junction protein, beta 2, 26kDa (connexin 26) |
| GJB6 | gap junction protein, beta 6 (connexin 30) |
| HTR2A | 5-HT2A receptor |
| PCCA | propionyl Coenzyme A carboxylase, alpha polypeptide |
| RB1 | retinoblastoma 1 (including osteosarcoma) |
| FLT1 | Fms related tyrosine kinase 1 (Vascular endothelial growth factor receptor 1) |
| SLITRK1 | mutation in this gene causes some (although very few) cases of Tourette syndrome and trichotillomania |
| SOX21 | Transcription factor SOX-21 is a protein that in humans is encoded by the SOX21; its disruption can lead to types of alopecia in mice. |
Doenças
- Trissomia 13, ou Síndrome de Patau
- Retinoblastoma
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