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
Recombinant Proteins
- Human
- Mouse
- Chicken
- Bovine
- Mus musculus
- E.coli
- Mammalian Cell
- HEK293
- Wheat Germ
- E.coli expression system
- His
- His&Fc&Avi
- GST
| Cat.# | Product name | Source (Host) | Species | Tag | Protein Length | Price |
|---|---|---|---|---|---|---|
| GJB6-3543H | Recombinant Human GJB6 protein, His-tagged | E.coli | Human | His | 182-261 aa | |
| GJB6-6378M | Recombinant Mouse GJB6 Protein | Mammalian Cell | Mouse | His |
|
|
| GJB6-6491C | Recombinant Chicken GJB6 | Mammalian Cell | Chicken | His |
|
|
| GJB6-3576M | Recombinant Mouse GJB6 Protein, His (Fc)-Avi-tagged | HEK293 | Mouse | His&Fc&Avi |
|
|
| GJB6-3576M-B | Recombinant Mouse GJB6 Protein Pre-coupled Magnetic Beads | HEK293 | Mouse |
|
||
| GJB6-4933H | Recombinant Human GJB6 Protein, GST-tagged | Wheat Germ | Human | GST |
|
|
| RFL12290GF | Recombinant Full Length Chicken Gap Junction Beta-6 Protein(Gjb6) Protein, His-Tagged | E.coli expression system | Chicken | His | Full L. Full Length (1-263) |
|
| RFL15839BF | Recombinant Full Length Bovine Gap Junction Beta-6 Protein(Gjb6) Protein, His-Tagged | E.coli expression system | Bovine | His | Full L. Full Length (1-261) |
|
| RFL21859MF | Recombinant Full Length Mouse Gap Junction Beta-6 Protein(Gjb6) Protein, His-Tagged | E.coli expression system | Mus musculus | His | Full L. Full Length (1-261) |
|
| RFL32271HF | Recombinant Full Length Human Gap Junction Beta-6 Protein(Gjb6) Protein, His-Tagged | E.coli expression system | Human | His | Full L. Full Length (1-261) |
|
Involved Pathway
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 |
|---|---|
| XPodNet - protein-protein interactions in the podocyte expanded by STRING | FRAS1,LIMS2,ATP9A,SNTB1,CDC42EP5,Siglece,SMARCD3,MTAP1A,O3far1,SDK1 |
| Calcium Regulation in the Cardiac Cell | GJA5,PKIB,RGS19,CX30.3,RGS11,ADRB3,CX27.5,RGS10,CHRM1,GJA10 |
Protein Function
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 | CFL2,PPFIA4,LHFPL5,TRPC2,SMARCA2,ZNF581,FBN1,RASSF4,CTBP1,SNW1 |
Interacting Protein
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
Resources
Related Services
Related Products
References
- 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).
