Erythrokeratoderma Variabilis Caused by p.Gly45Glu in Connexin 31: Importance of the First Extracellular Loop Glycine Residue for Gap Junction Function

Acta Derm Venereol. 2016 May;96(4):557-9. doi: 10.2340/00015555-2307.

Authors

Takuya Takeichi¹, Kazumitsu Sugiura, Chao-Kai Hsu, Toshifumi Nomura, Hiroyuki Takama, Michael A Simpson, Hiroshi Shimizu, John A McGrath, Masashi Akiyama

Affiliation

¹ Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan.

PMID: 26632638
DOI: 10.2340/00015555-2307

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't
Review

MeSH terms

Child
Connexin 43 / chemistry
Connexin 43 / genetics*
Connexin 43 / metabolism
DNA Mutational Analysis
Erythrokeratodermia Variabilis / diagnosis
Erythrokeratodermia Variabilis / genetics*
Erythrokeratodermia Variabilis / metabolism
Female
Gap Junctions / metabolism*
Gap Junctions / pathology
Genetic Predisposition to Disease
Humans
Mutation, Missense*
Phenotype
Protein Conformation
Skin / metabolism*
Skin / pathology
Structure-Activity Relationship

Substances

Connexin 43
GJA1 protein, human