Gap junction gamma-2 protein; Connexin-466; Cx466; Connexin-47; Cx47; Gap junction alpha-12 protein; GJC2; GJA12

For Research Use Only. Not for use in diagnostic procedures.

Monoclonal

IgM

391CT6.4.3

Mouse

This GJC2 antibody is generated from mice immunized with a KLH conjugated synthetic peptide between 53-78 amino acids from the N-terminal region of human GJC2.

Mouse monoclonal antibody supplied in crude ascites with 0.09% (W/V) sodium azide.

Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C in small aliquots to prevent freeze-thaw cycles.

Small volumes of anti-GJC2 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

GJC2 is 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.

Neuroscience; Signal Transduction

Western Blot (WB), ELISA (EIA)

WB~~1:100~8000

GJC2 Antibody (N-term) western blot analysis in A549 cell line lysates (35ug/lane).This demonstrates the GJC2 antibody detected the GJC2 protein (arrow).

47002

gap junction protein, gamma 2, 47kDa

gap junction gamma-2 protein

Gap junction gamma-2 protein

GJA12; Cx46.6; Cx47??[Similar Products]

CXG2_HUMAN

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]

GJA12: 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. 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. Defects in GJC2 are the cause of lymphedema hereditary type 1C (LMPH1C). LMPH1C is a chronic disabling condition which results in swelling of the extremities due to altered lymphatic flow. Patients with lymphedema suffer from recurrent local infections and physical impairment. Belongs to the connexin family. Gamma-type subfamily.

Protein type: Membrane protein, multi-pass; Membrane protein, integral

Chromosomal Location of Human Ortholog: 1q42.13

Cellular Component: connexon complex; integral to membrane; myelin sheath

Molecular Function: gap junction channel activity

Biological Process: cell-cell signaling; response to toxin; transmembrane transport

Disease: Leukodystrophy, Hypomyelinating, 2; Lymphedema, Hereditary, Ic; Spastic Paraplegia 44, Autosomal Recessive

Ferrell, R.E., et al. Am. J. Hum. Genet. 86(6):943-948(2010)
Wang, J., et al. Brain Dev. 32(3):236-243(2010)
Ishikawa, T., et al. Rinsho Shinkeigaku 50(1):7-11(2010)
Ruf, N., et al. Am. J. Med. Genet. B Neuropsychiatr. Genet. 150B (2), 226-232 (2009) :
Orthmann-Murphy, J.L., et al. Brain 132 (PT 2), 426-438 (2009) :

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