connexin-31; gap junction protein beta-3 (CX31)

Pathology

• mutations seen in
  • erythrokeratoderma variabilis
  • autosomal dominant nonsyndromic sensorineural deafness type 2

More general terms

• connexin (gap-junction protein)

Database

• UniProt: http://www.uniprot.org/uniprot/O75712.html
• OMIM: https://mirror.omim.org/entry/603324
• OMIM: https://mirror.omim.org/entry/133200
• OMIM: https://mirror.omim.org/entry/600101