Gap Junction Protein Beta 6 (GJb6)

HED; DFNA3; CX30; ED2; EDH; Ectodermal Dysplasia 2,Hidrotic; Connexin 30

SPN	S589
HGNC	4288
MGI	107588
PubMed	15967879
RGD	621830
UniProt	O95452
Wiki	GJB6

Gap junctions allow the transport of ions and metabolites between the cytoplasm of adjacent cells. Each connexin protein has four transmembrane segments, two extracellular loops, a cytoplasmic loop formed between the two inner transmembrane segments, and the N- and C-terminus both being in the cytoplasm. The specificity of the gap junction is determined by which connexin proteins comprise the hemichannel. In the past, connexin protein names were based on their molecular weight, however the new nomenclature uses sequential numbers based on which form of the gap junction is present. GJb6 encodes one of the connexin proteins. Mutations in this gene have been found in some forms of deafness and in some families with hidrotic ectodermal dysplasia.

Reference

"Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus."
Nat. Genet. 23:16-18(1999) [PubMed] [Europe PMC] [Abstract]

"Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: molecular cloning, tissue-specific expression, and assignment to chromosome 13q12."
Genomics 62:172-176(1999) [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]

"Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries."
DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and analysis of human chromosome 13."
Nature 428:522-528(2004) [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]

"Gene structure and promoter analysis of the human GJB6 gene encoding connexin 30."
Gene 350:33-40(2005) [PubMed] [Europe PMC] [Abstract]

"A deletion involving the connexin 30 gene in nonsyndromic hearing impairment."
N. Engl. J. Med. 346:243-249(2002) [PubMed] [Europe PMC] [Abstract]

"A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment."
J. Med. Genet. 42:588-594(2005) [PubMed] [Europe PMC] [Abstract]

"Mutations in GJB6 cause hidrotic ectodermal dysplasia."
Nat. Genet. 26:142-144(2000) [PubMed] [Europe PMC] [Abstract]

"A novel connexin 30 mutation in Clouston syndrome."
J. Invest. Dermatol. 118:530-532(2002) [PubMed] [Europe PMC] [Abstract]

"Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss."
Br. J. Dermatol. 161:452-455(2009) [PubMed] [Europe PMC] [Abstract]