Dictionary > Connexin 26

Connexin 26

Definition
noun
A gap junction protein that has been regionally specialize structures on plasma membranes of the contacting adherent cells which consists of cell to cell channel.
Supplement
Connexin 26 is a protein establish on the GJB2 gene which mostly relates as the cause of congenital hearing loss. It also regulates epidermal blockade and wound refashioning that promotes responses. The mutation of connexin 26 gene modulates the harshness of hearing loss due to 1555A-G mitochondrial mutation as a consequence it is accountable for at least 20% of genetic hearing loss and 10% childhood hearing loss though in ethnic populations more than 80% cases of non-syndromic recessive deafness caused by the mutation of these gene. It affects pre-lingual hearing loss since it appears in the child before the development of speech.
Connexin 26 mutations are hereditarily pass on from the parent to child in a recessive behavior wherein an affected offspring inherited one copy of non-functioning gene from each parent though one normal gene and one mutated gene do not manifest these conditions yet have 1:2 chance of passing the defective gene to its progeny much more if the parents are both carriers of these mutated gene. There are no other medical problems associated to these conditions since the mutations isolated only to hearing loss however there are some minority cases of skin disorder in patients with connexin 26 mutations.
Connexin 26 transcript holds a putative mRNA volatility sequence which has 226 amino acid protein that has a molecular mass of about 26 kD and is assigned to human chromosome 13q11-q12.
Gene name: GJB2
Protein name: Gap junction beta-2 protein
See also:
• Connexin
• Connexin 30


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