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GJB6

Official Full Name

gap junction protein, beta 6
Overview

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).
Synonyms

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

Type

Recombinant Proteins
Protein Pre-coupled Magnetic Beads

Species

Bos taurus (Bovine)
Chicken
Gallus gallus (Chicken)
Homo sapiens (Human)
Human
Mouse
Mus musculus (Mouse)

Source

E.coli
E.coli expression system
HEK293
Mammalian Cell
Wheat Germ

Tag

GST
His
His (Fc)
Avi

Species	Cat.#	Product name	Source (Host)	Tag	Protein Length	Price
Human	GJB6-4933H	Recombinant Human GJB6 Protein, GST-tagged	Wheat Germ	GST		Inquiry
Human	GJB6-3543H	Recombinant Human GJB6 protein, His-tagged	E.coli	His	182-261 aa	$319 / 25ug
Mouse	GJB6-6378M	Recombinant Mouse GJB6 Protein	Mammalian Cell	His		Inquiry
Mouse	GJB6-3576M	Recombinant Mouse GJB6 Protein, His (Fc)-Avi-tagged	HEK293	His (Fc)-Avi		Inquiry
Mouse	GJB6-3576M-B	Recombinant Mouse GJB6 Protein Pre-coupled Magnetic Beads	HEK293			Inquiry
Bos taurus (Bovine)	RFL15839BF	Recombinant Full Length Bovine Gap Junction Beta-6 Protein(Gjb6) Protein, His-Tagged	E.coli expression system	His	Full Length (1-261)	Inquiry
Gallus gallus (Chicken)	RFL12290GF	Recombinant Full Length Chicken Gap Junction Beta-6 Protein(Gjb6) Protein, His-Tagged	E.coli expression system	His	Full Length (1-263)	Inquiry
Homo sapiens (Human)	RFL32271HF	Recombinant Full Length Human Gap Junction Beta-6 Protein(Gjb6) Protein, His-Tagged	E.coli expression system	His	Full Length (1-261)	Inquiry
Mus musculus (Mouse)	RFL21859MF	Recombinant Full Length Mouse Gap Junction Beta-6 Protein(Gjb6) Protein, His-Tagged	E.coli expression system	His	Full Length (1-261)	Inquiry
Chicken	GJB6-6491C	Recombinant Chicken GJB6	Mammalian Cell	His		Inquiry

Involved Pathway
Protein Function
Interacting Protein
GJB6 Related Articles

GJB6 involved in several pathways and played different roles in them. We selected most pathways GJB6 participated on our site, such as Calcium Regulation in the Cardiac Cell, XPodNet - protein-protein interactions in the podocyte expanded by STRING, which may be useful for your reference. Also, other proteins which involved in the same pathway with GJB6 were listed below. Creative BioMart supplied nearly all the proteins listed, you can search them on our site.

Pathway Name	Pathway Related Protein
Calcium Regulation in the Cardiac Cell	RGS10;ADRA1B;CX30.3;RGS17;GNB3B;PKIG;CASQ1;GJC2;GJA8
XPodNet - protein-protein interactions in the podocyte expanded by STRING	FAM65A;TSSK5;FRAS1;MICALL2;O3far1;FLII;SDK1;MTAP1A;GIMAP3

GJB6 has several biochemical functions, for example, protein binding. Some of the functions are cooperated with other proteins, some of the functions could acted by GJB6 itself. We selected most functions GJB6 had, and list some proteins which have the same functions with GJB6. You can find most of the proteins on our site.

Function	Related Protein
protein binding	ZNF346;DLGAP1;C5orf20;SEPT12;MAL2;TTYH2;C3orf39;EPS15;PCID2

GJB6 has direct interactions with proteins and molecules. Those interactions were detected by several methods such as yeast two hybrid, co-IP, pull-down and so on. We selected proteins and molecules interacted with GJB6 here. Most of them are supplied by our site. Hope this information will be useful for your research of GJB6.

Tjp1; Cnst; Cnst

Kashef, A; Nikzat, N; et al. Finding mutation within non-coding region of GJB2 reveals its importance in genetic testing of Hearing Loss in Iranian population. INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY 79:136-138(2015).

Wonkam, A; Bosch, J; et al. No evidence for clinical utility in investigating the connexin genes GJB2, GJB6 and GJA1 in non-syndromic hearing loss in black Africans. SAMJ SOUTH AFRICAN MEDICAL JOURNAL 105:23-26(2015).