Connexin 31 (CX31)

GJB3; GJ-B3; DFNA2; EKV; Gap Junction Protein Beta 3; Erythrokeratodermia Variabilis

SPN	V367
HGNC	4285
MGI	95721
PubMed	12630965
RGD	2695
UniProt	O75712
Wiki	Connexin_31

Gap junctions are conduits that allow the direct cell-to-cell passage of small cytoplasmic molecules, including ions, metabolic intermediates, and second messengers, and thereby mediate intercellular metabolic and electrical communication. Gap junction channels consist of connexin protein subunits, which are encoded by a multigene family that includes GJB3. Gap junction beta-3 protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein.

Reference

"Human gap junction protein connexin31: molecular cloning and expression analysis."
Biochem. Biophys. Res. Commun. 248:910-915(1998) [PubMed] [Europe PMC] [Abstract]

"Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis."
Nat. Genet. 20:366-369(1998) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and biological annotation of human chromosome 1."
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment."
Nat. Genet. 20:370-373(1998) [PubMed] [Europe PMC] [Abstract]

"Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis."
J. Invest. Dermatol. 113:1119-1122(1999) [PubMed] [Europe PMC] [Abstract]

"Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family."
Eur. J. Hum. Genet. 8:141-144(2000) [PubMed] [Europe PMC] [Abstract]

"The spectrum of mutations in erythrokeratodermias -- novel and de novo mutations in GJB3."
Hum. Genet. 106:321-329(2000) [PubMed] [Europe PMC] [Abstract]

"Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene."
Hum. Mutat. 15:481-482(2000) [PubMed] [Europe PMC] [Abstract]

"Connexin mutations in Brazilian patients with skin disorders with or without hearing loss."
Am. J. Med. Genet. A 149:681-684(2009) [PubMed] [Europe PMC] [Abstract]