GJC2,间隙连接蛋白47抗体

产品编号HZ-11050R
英文名称GJC2
中文名称间隙连接蛋白47抗体
别 名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; Gjc2; HLD 2; HLD2; PMLDAR; SPG44; CXG2_HUMAN.
说 明 书0.1ml 0.2ml
研究领域神经生物学 信号转导 细胞骨架 细胞外基质
抗体来源Rabbit
克隆类型Polyclonal
交叉反应 Human, Mouse, Rat, Chicken, Dog, Pig, Cow, Rabbit, Sheep, Guinea Pig,
GJC2,间隙连接蛋白47抗体产品应用WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复）
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量47kDa
细胞定位细胞膜
性 状Lyophilized or Liquid
浓 度1mg/1ml
免 疫 原KLH conjugated synthetic peptide derived from human GJC2/Connexin 47
亚 型IgG
纯化方法affinity purified by Protein A
储 存 液0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
保存条件Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.
GJC2,间隙连接蛋白47抗体PubMedPubMed
产品介绍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:
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 (By similarity).

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.

GJC2,间隙连接蛋白47抗体Similarity:
Belongs to the connexin family. Gamma-type subfamily.

Gene ID:
57165

Database links:
Entrez Gene: 57165 Human
Entrez Gene: 118454 Mouse
Entrez Gene: 497913 Rat
Omim: 608803 Human
SwissProt: Q5T442 Human
SwissProt: Q8BQU6 Mouse
SwissProt: Q80XF7 Rat
Unigene: 100072 Human
Unigene: 40016 Mouse
Unigene: 203000 Rat

GJC2,间隙连接蛋白47抗体Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.