GJB2
GJB2
GJB2 (/ˈdʒiːdʒiːbiːˈtuː/), also known as gap junction protein beta 2 or connexin 26, is a protein that in humans is encoded by the GJB2 gene.
Etymology
The term GJB2 is derived from the words 'gap junction protein beta 2'. The term 'gap junction' refers to a type of cell junction that allows various molecules, ions and electrical impulses to pass directly from one cell to an adjacent one. The term 'beta 2' is a subtype of this protein.
Function
GJB2 is a member of the connexin family of proteins, which play a critical role in the formation of gap junctions. These junctions are essential for direct intercellular communication, allowing for the exchange of ions and small molecules between adjacent cells.
Clinical significance
Mutations in the GJB2 gene are associated with a variety of genetic hearing disorders, including non-syndromic hearing loss, Pendred syndrome, and KID syndrome.
Related terms
External links
- Medical encyclopedia article on GJB2
- Wikipedia's article - GJB2
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