Chromosome 13 (human) - Genes

Genes

The following are some of the genes located on chromosome 13:

  • 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.

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