GJs
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#