Connexin 26: required for normal auditory function.
A single base deletion mutation, 35delG, in the gene (GJB2/DFNB1)(OMIM 121011/220290) encoding the gap junction protein, connexin 26 is the most important single cause of genetic hearing loss in European and American populations. It is the cause of one of the most common human genetic disorders with a frequency similar to cystic fibrosis. Mutations in this connexin are associated with skin disorders.
Kelley
P M
PM
Center for Hereditary Communication Disorders, Boys Town National Research Hospital, Omaha, NE 68131, USA. kelley@boystown.org
Cohn
E
E
Kimberling
W J
WJ
D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000235:genetics* / Q000503:physiopathology*; D016368:Frameshift Mutation; D017629:Gap Junctions / Q000502:physiology*; D006309:Hearing / Q000502:physiology*; D006801:Humans
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26