Gap junction gamma-2 protein; B230382L12Rik; 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; LMPH1C; MGC105119; MGC130506; OTTHUMP00000037763; PMLDAR; SPG44; gap junction protein, gamma 2, 47kDa

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

Polyclonal

Immunogen Affinity Purified

Lyophilized. Each vial contains 5mg BSA, 0.9mg NaCl, 0.2mg Na2HPO4, 0.05mg NaN3.

At -20 degree C for one year. After reconstitution, at 4 degree C for one month. It can also be aliquoted and stored frozen at -20 degree C for a longer time. Avoid repeated freezing and thawing.

Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.

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.

Description: Rabbit IgG polyclonal antibody for Gap junction gamma-2 protein(GJC2) detection. Tested with WB in Human;Mouse;Rat.

Background: Gap junction gamma-2 (GJC2), also known as connexin-46.6 (Cx46.6) and connexin-47 (Cx47) and gap junction alpha-12 (GJA12), is a protein that in humans is encoded by the GJC2 gene. It is mapped to 1q42.13. 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.

Western Blot (WB)

Western Blot Concentration: 0.1-0.5ug/ml

Anti- GJC2 Picoband antibody, MBS178173, Western blotting
All lanes: Anti GJC2 (MBS178173) at 0.5ug/ml
Lane 1: Rat Brain Tissue Lysate at 50ug
Lane 2: Mouse Brain Tissue Lysate at 50ug
Lane 3: U20S Whole Cell Lysate at 40ug
Lane 4: HELA Whole Cell Lysate at 40ug
Predicted bind size: 47KD
Observed bind size: 47KD

47,002 Da

gap junction protein gamma 2

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, integral; Membrane protein, multi-pass

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

1. Ferrell RE, Baty CJ, Kimak MA; et al. (2010).?"GJC2 missense mutations cause human lymphedema.".?Am. J. Hum. Genet.?86?(6): 943-8. 2. Ostergaard P, Simpson MA, Brice G; et al. (2011). "Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.".?J. Med. Genet.?48?(4): 251-5. 3. Wolf NI, Cundall M, Rutland P; et al. (2007). "Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination.".Neurogenetics?8?(1): 39-44.

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