GJB6 peptide

Nature

Synthetic

Tag/Conjugate

Unconjugated

SequenceSimilarities

CX30 peptide is a synthetic peptide cooresponding to 14 amino acids from an internal region of CX30.

Purity

> 95 % by SDS-PAGE.

Format

Lyophilized

Preservative

None

Storage

Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles. Information available upon request.

Reconstitution

GJB6 peptide is supplied as 1mg of dried peptide. When the peptide is reconstituted in 1 mL strile water, the concentration will be 1 mg/mL.

Introduction

Defects in GJB6 are the cause of ectodermal dysplasia type 2 (ED2); also known as Clouston syndrome. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. ED2 is an autosomal dominant condition characterized by atrichosis, nail hypoplasia and deformities, hyperpigmentation of the skin, normal teeth, normal sweat and sebaceous gland function. Palmoplantar hyperkeratosis is a frequent features. Hearing impairment has been detected in few cases of ED2. Defects in GJB6 are the cause of deafness autosomal recessive type 1B (DFNB1B) [MIM:612645]. DFNB1B is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Defects in GJB6 are the cause of deafness autosomal dominant type 3B (DFNA3B).

Entrez Gene ID

Synonyms

GJB6; gap junction protein, beta 6; Cx30; AA958971; D14Bwg0506e; gap junction beta-6 protein; connexin-30; gap junction membrane channel protein beta 6;