Introduction of GJB3
Gap junction beta-3 protein (GJB3) is also known as connexin 31 (Cx31). The protein is encoded by the GJB3 gene in humans and belongs to the connexin gene family. The GJB3 gene, which contains two exons and an open reading frame of 813 base pairs, is localized on chromosome 1p34. The GJB3 gene product, CX31 protein, contains 270 amino acid residues and has a molecular weight of 31 kDa. The protein is a gap junctions component that are composed of arrays of intercellular channels which provide a route for the diffusion of low molecular weight materials from cell to cell. The mutations in the GJB3 gene may cause a skin disorder (erythrokeratodermia variabilis) or non-syndromic deafness. Alternative splicing leads to multiple transcript variants encoding the same protein. Gene ontology annotations related to the GJB3 gene include gap junction channel activity. An important paralog of this gene is GJB4.
|Basic Information of GJB3|
|Protein Name||Gap junction beta-3 protein|
|Aliases||Connexin-31, Cx31, CX31|
|Organism||Homo sapiens (Human)|
Function of GJB3 Membrane Protein
GJB3 is highly expressed in the stratum granulosum of the upper differentiating layer of the epidermis. It is also found in the cochlea and peripheral nerves. A significant correlation between the GJB3 gene mutation and erythrokeratodermia variabilis (EKV) has been found. Two amino acid variants (G12R and G12D) have been found in CX31 in the four EKV families. Furthermore, multiple autosomal dominant (R42P, C86S, and F137L) and recessive (L34P) CX31 mutations have been found to be related to EKV. GJB3 mutations are also associated with nonsyndromic hearing loss. The mutations in CX31 (E183K and R180X) have been reported to cause an autosomal dominant form of nonsyndromic hearing impairment. The compound heterozygote mutations disrupt the M3 domain of CX31, affecting the function of the CX31 protein and leading to hearing loss. These findings demonstrate the requirement of CX31 for normal cochlear function, indicating that GJB3 is a novel candidate gene for the study of auditory neuropathy.
Fig.1 Interacting proteins for GJB3 gene.
Application of GJB3 Membrane Protein in Literature
This article focuses on the possible relationship between the GJB3 c.538C>T variant and hearing phenotype. The results show that GJB3 c.538C>T does not contribute to hearing loss.
The article indicates that the novel GJB3 mutation (p.Thr202Asn) in the M4 transmembrane domain is responsible for variability of erythroderma.
The article demonstrats that CX31V174M mutant may have a trans-dominant negative effect on the function of wild types CX26, which provides a novel molecular explanation for the role that GJB3 plays in hearing loss.
The article reveals that the missense mutation in the GJB3 gene is responsible for erythrokeratodermia variabilis in a Chinese family.
This article reports that the deletion of GJB3 leads to different giant cell subtypes that bypass the progenitor regulators Tfap2c and Tpbpa under low oxygen conditions.
GJB3 Preparation Options
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