Target:Connexin 47
Gene Name:GJC2
Protein Name:Gap junction gamma-2 protein
Human Gene Id:57165
Human Swiss Prot No:Q5T442
Mouse Swiss Prot No:Q8BQU6
Immunogen:The antiserum was produced against synthesized peptide derived from human CXG2. AA range:21-70
Specificity:Connexin 47 Polyclonal Antibody detects endogenous levels of Connexin 47 protein.
Formulation:Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Source:Polyclonal, Rabbit,IgG
Dilution:WB 1:500 - 1:2000. IF 1:200 - 1:1000. ELISA: 1:10000. Not yet tested in other applications.
Purification:The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Concentration:1 mg/ml
Storage Stability:-15°C to -25°C/1 year(Do not lower than -25°C)
Other Name:GJC2;GJA12;Gap junction gamma-2 protein;Connexin-46.6;Cx46.6;Connexin-47;Cx47;Gap junction alpha-12 protein
Observed Band(KD):47kD
Background: This gene encodes a gap junction protein. Gap junction proteins are members of a large family of homologous connexins and comprise 4 transmembrane, 2 extracellular, and 3 cytoplasmic domains. This gene plays a key role in central myelination and is involved in peripheral myelination in humans. Defects in this gene are the cause of autosomal recessive Pelizaeus-Merzbacher-like disease-1. [provided by RefSeq, Jul 2008],
Function:caution:It is uncertain whether Met-1 or Met-4 is the initiator.,disease:Defects in GJC2 are the cause of Leukodystrophy hypomyelinating type 2 (HLD2) [MIM:608804]; also known as Pelizaeus-Merzbacher-like disease autosomal recessive type 1. HLD2 is an autosomal recessive hypomyelinating leukodystrophy characterized by nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria and progressive spasticity.,function:One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. May play a role in myelination in central and peripheral nervous systems.,similarity:Belongs to the connexin family. Gamma-type subfamily.,subunit:A connexon is composed of a hexamer of connexins. Interacts with TJP1.,tissue specificity:Expressed in central nervous system,
Subcellular Location:Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.
Expression:Expressed in central nervous system, in sciatic nerve and sural nerve. Also detected in skeletal muscles.