GJA1
MIM.121014 6q21-q23.2
Connexin-43 is the major protein of gap junctions in the heart, and gap junctions are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development.
CX43 is targeted by several protein kinases that regulate myocardial cell-cell coupling. Locus: 6q22-q23.
Pathology
germline mutations in
- oculodentodigital dysplasia (ODDD) (MIM.164200) (#12457340#)
- type III syndactyly (MIM.186100)
- hypoplastic left heart syndrome (MIM.241550)
References
Granot I, Dekel N. The ovarian gap junction protein connexin43: regulation by gonadotropins. Trends Endocrinol Metab. 2002 Sep;13(7):310-3. PMID: #12163234#