What is the function of connexin?

Connexins are a family of at least 15 proteins that form intercellular membrane channels of gap junctions and allow diffusional movement of ions, metabolites, and potential signaling molecules. These structural molecules play important roles in bi-directional communication between the oocyte and granulosa cells.

Is there a cure for connexin 26?

Pathogenic variants in GJB2, the gene encoding connexin 26, are the most common cause of autosomal-recessive hereditary deafness. Despite this high prevalence, pathogenic mechanisms leading to GJB2-related deafness are not well understood, and cures are absent.

What is Bart Pumphrey syndrome?

Bart-Pumphrey syndrome is characterized by nail and skin abnormalities and hearing loss. People with Bart-Pumphrey syndrome typically have a white discoloration of the nails (leukonychia); the nails may also be thick and crumbly.

How many connexins are there?

To date, the connexin gene family comprises 20 members in the mouse and 21 members in the human genome, 19 of which can be grouped as sequence-orthologous pairs. The structure of connexin genes is relatively simple.

How many helical subunits does a connexin have?

Gap junction channels connect the cytoplasms of adjacent cells through the end-to-end docking of single-membrane structures called connexons, formed by a ring of six connexin monomers. Each monomer contains 4 transmembrane α-helices, for a total of 24 α-helices in a connexon.

Where is gap junction located?

Gap junctions are aggregates of intercellular channels that permit direct cell–cell transfer of ions and small molecules. Initially described as low-resistance ion pathways joining excitable cells (nerve and muscle), gap junctions are found joining virtually all cells in solid tissues.

What is a connexin?

“Connexins: a myriad of functions extending beyond assembly of gap junction channels”. Cell Commun Signal. 7: 4. doi: 10.1186/1478-811X-7-4.

How many connexin proteins are in a gap junction?

A gap junction, composed of twelve identical connexin proteins, six in the membrane of each cell. Each of these six units is a single polypeptide which passes the membrane four times (referred to as four-pass transmembrane proteins).

What is connexin 26 made up of?

Connexin-26 dodecamer. A gap junction, composed of twelve identical connexin proteins, six in the membrane of each cell. Each of these six units is a single polypeptide which passes the membrane four times (referred to as four-pass transmembrane proteins).

What controls connexin 43-mediated gap junctional communication in mouse epidermal cells?

“Regulation of connexin 43-mediated gap junctional intercellular communication by Ca2+ in mouse epidermal cells is controlled by E-cadherin”. J. Cell Biol. 114 (3): 545–55. doi: 10.1083/jcb.114.3.545. PMC 2289094. PMID 1650371. ^ Wei CJ, Francis R, Xu X, Lo CW (May 2005).