connexin-30; gap junction protein beta-6 (CX30, GJB6)

Function

• connexins form gap junctions

Compartment

• membrane, multipass
• gap junction

Pathology

• defects in Cx30 are the cause of
  • ectodermal dysplasia type 2
  • deafness autosomal recessive type 1B
  • deafness autosomal dominant type 3B

More general terms

• connexin (gap-junction protein)

Database

• UniProt: http://www.uniprot.org/uniprot/O95452.html
• OMIM: https://mirror.omim.org/entry/604418
• OMIM: https://mirror.omim.org/entry/601544