TEL: +86 571 56623320 EMAIL: [email protected]
Product Name GJC2 Chinese Name 间隙连接蛋白47抗体 Alias Connexin 46.6; Connexin 47; Connexin-46.6; Connexin-47; Connexin46.6; Connexin47; CX 46.6; Cx 47; Cx46.6; Cx47; CXG2_HUMAN; Gap junction alpha 12 protein; Gap junction alpha-12 protein; Gap junction gamma 2 protein; Gap junction gamma-2 protein; Gap junction protein alpha 12 47kDa; Gap junction protein gamma 2 47kDa; GAP JUNCTION PROTEIN, 47-KD; gap junction protein, gamma 12, 47kDa; gap junction protein, gamma 2, 47kDa; GJA 12; GJA12; GJC 2; HLD 2; HLD2; PMLDAR; SPG44; CXG2_HUMAN. Research Area Neurobiology Signal transduction Cytoskeleton Extracellular matrix Immunogen Species Rabbit Clonality Polyclonal React Species (predicted: Human, Mouse, Rat, Chicken, Dog, Pig, Cow, Rabbit, Sheep, Guinea Pig, ) Applications WB=1:500-2000 ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 (Paraffin sections need antigen repair)
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 47kDa Cellular localization The cell membrane Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human GJC2/Connexin 47: 21-120/439 <Extracellular> Lsotype IgG Purification affinity purified by Protein A Buffer Solution 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail 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:
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.
Subunit:
A connexon is composed of a hexamer of connexins. Interacts with TJP1.
Subcellular Location:
Cell membrane. Cell junction; gap junction.
Tissue Specificity:
Expressed in central nervous system, in sciatic nerve and sural nerve. Also detected in skeletal muscles.
DISEASE:
Defects in GJC2 are the cause of leukodystrophy hypomyelinating type 2 (HLD2) ; 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.
Defects in GJC2 are the cause of spastic paraplegia autosomal recessive type 44 (SPG44). A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.
Similarity:
Belongs to the connexin family. Gamma-type subfamily.
SWISS:
Q5T442
Gene ID:
57165
Database links:Entrez Gene: 57165 Human
Entrez Gene: 118454 Mouse
Omim: 608803 Human
SwissProt: Q5T442 Human
SwissProt: Q8BQU6 Mouse
Unigene: 100072 Human
Unigene: 40016 Mouse
Unigene: 203000 Rat
Scan Wechat Qrcode