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GJA1

MIM.121014 6q21-q23.2

GAP junction protein alpha-1, connexin-43, heart connexin

 

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

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#



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