Members

GJAs

GJA1

GJA2

GJA3

GJA4

GJA5

GJA6

GJA7

GJA8

GJA9

GJA10

GJA11

GJA12

GJBs

GJB1

GJB2

GJB3

GJ4

GJB5

GJB6

GJCs

GJC1

Pathology (connexinopathies)

 GJA1 (connexin-43 or heart connexin) (MIM.121014) - mutations in:

• oculodentodigital dysplasia (ODDD) (MIM.164200)
• type 3 syndactyly (MIM.186100)
• hypoplastic left heart syndrome (MIM.241550)

 GJA3 (connexin-46) (MIM.121015) - mutations in autosomal dominant zonular pulverulent cataract-3 (CZP3) (MIM.601885)

 GJA8 (connexin-50) (MIM.600897)- mutations in type 1 zonular pulverulent cataract (CZP1) (MIM.116200)

 GJA12 (connexin-46.6) : mutations in the Pelizaeus-Merzbacher-like disease

 GJB1 (connexin-32) (MIM.304040)- mutations in X-linked Charcot-Marie-Tooth disease (MIM.302800)

 GJB2 (connexin-26) (MIM.121011)

• mutations in type I autosomal recessive neurosensory deafness (DFNB1) (MIM.220290)
• autosomal dominant deafness (DFNA3) (MIM.601544)
• autosomal dominant keratitis-ichtyosis-deafness syndrome (MIM.148210)
• palmoplantar keratoderma with deafness (MIM.148350)
• hystrix-like ichthyosis (MIM.602540)
• mutilating keratoderma with ichthyosis (Vohwinkel's syndrome with ichtyosis)(MIM.604117)

 GJB3 (connexin-31) (MIM.60324) - mutations in erythrokeratodermia variabilis (EKV) (MIM.133200) and autosomal dominant nonsyndromic sensorineural deafness (MIM.600101)

 GJB4 (connexin-30.3) (MIM.605425) - mutations in erythrokeratodermia variabilis (EKV) (MIM.133200)

 GJB6 (connexin-30) (MIM.604418) - mutations in

• type 2 hidrotic ectodermal dysplasia (Clouston's disease) (MIM.129500)
• type 3 automal dominant nonsyndromic sensorineural deafness(DFNA3) (MIM.601544)
• nonsyndromic prelingual deafness (MIM.220290)

See also

 connexinopathies (Gap junction diseases)

• cutaneous connexinopathies
• cardiac connexinopathies
• cerebrospinal connexinopathies

References

 van Steensel MA. Gap junction diseases of the skin. Am J Med Genet. 2004 Nov 15;131C(1):12-9. PMID: #15468169#

 Goodenough DA, Paul DL. Beyond the gap: functions of unpaired connexon channels. Nat Rev Mol Cell Biol. 2003 Apr;4(4):285-94. #12671651#

 Rabionet R, Lopez-Bigas N, Arbones ML, Estivill X. Connexin mutations in hearing loss, dermatological and neurological disorders. Trends Mol Med. 2002 May;8(5):205-12. PMID: #12067629#

 Kelsell DP, Dunlop J, Hodgins MB. Human diseases: clues to cracking the connexin code? Trends Cell Biol. 2001 Jan;11(1):2-6. PMID: #11146276#