Article
Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.
American journal of human genetics - 1 Feb 2003
Paznekas William A, Boyadjiev Simeon A, Shapiro Robert E, Daniels Otto, Wollnik Bernd, Keegan Catherine E, Innis Jeffrey W, Dinulos Mary Beth, Christian Cathy, Hannibal Mark C, Jabs Ethylin Wang
Abstract excerpt
Gap junctions are assemblies of intercellular channels that regulate a variety of physiologic and developmental processes through the exchange of small ions and signaling molecules. These channels consist of connexin family proteins that allow for diversity of channel composition and conductance properties. The human connexin 43 gene, or GJA1, is located at human chromosome 6q22-q23 within the candidate region...
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- Chromosomes, Human, Pair 6
- Connexin 43
- Conserved Sequence
- Craniofacial Abnormalities
- Eye Abnormalities
- Female