Identification of a novel mutation R42P in the gap...[J Invest Dermatol. 1999]

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1: J Invest Dermatol. 1999 Dec;113(6):1119-22. Links

Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis.

Wilgoss A, Leigh IM, Barnes MR, Dopping-Hepenstal P, Eady RA, Walter JM, Kennedy CT, Kelsell DP.

Centre for Cutaneous Research, St. Bartholomew's and the Royal London Hospital School of Medicine and Dentistry, Queen Mary and Westfield College, London, UK.

We report a missense mutation in the gap junction protein beta-3 (encoding Connexin 31), which was detected in only the affected members of a family in which the autosomal dominant skin disease erythrokeratoderma variabilis was segregating. The nucleotide change results in an arginine to proline substitution in codon 42. This residue is positioned on the first transmembrane/first extracellular domain of the gap junction protein with the mutation replacing a negatively charged residue with a nonpolar residue. This change may disrupt the conformation of the protein and voltage gating polarity leading to impaired channel function.

PMID: 10594760 [PubMed - indexed for MEDLINE]

A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein.
Hum Mol Genet. 2002 May 15; 11(11):1311-6.

[Hum Mol Genet. 2002]
The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3.
Hum Genet. 2000 Mar; 106(3):321-9.

[Hum Genet. 2000]
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.
Am J Hum Genet. 2002 May; 70(5):1341-8. Epub 2002 Mar 22.

[Am J Hum Genet. 2002]
ReviewEmerging issues of connexin channels: biophysics fills the gap.
Q Rev Biophys. 2001 Aug; 34(3):325-472.

[Q Rev Biophys. 2001]
ReviewGap junction diseases of the skin.
Am J Med Genet C Semin Med Genet. 2004 Nov 15; 131C(1):12-9.

[Am J Med Genet C Semin Med Genet. 2004]
» See reviews... | » See all...

Cited by 3 PubMed Central articles

A novel N14Y mutation in Connexin26 in keratitis-ichthyosis-deafness syndrome: analyses of altered gap junctional communication and molecular structure of N terminus of mutated Connexin26.
Arita K, Akiyama M, Aizawa T, Umetsu Y, Segawa I, Goto M, Sawamura D, Demura M, Kawano K, Shimizu H. Am J Pathol. 2006 Aug; 169(2):416-23.

[Am J Pathol. 2006]
ReviewConnexin mutations in skin disease and hearing loss.
Kelsell DP, Di WL, Houseman MJ. Am J Hum Genet. 2001 Mar; 68(3):559-68. Epub 2001 Jan 25.

[Am J Hum Genet. 2001]
Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis.
Macari F, Landau M, Cousin P, Mevorah B, Brenner S, Panizzon R, Schorderet DF, Hohl D, Huber M. Am J Hum Genet. 2000 Nov; 67(5):1296-301. Epub 2000 Oct 3.

[Am J Hum Genet. 2000]

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Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis.

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Cited by 3 PubMed Central articles

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