Full Product Name
GJC2 Rabbit Polyclonal
Product Gene Name
anti-GJC2 antibody
[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Species Reactivity
Human, Mouse
Purity/Purification
>=95% as determined by SDS-PAGE
Immunogen Affinity Purified
Immunogen
Gap junction protein, gamma 2, 47kDa
Preparation and Storage
PBS with 0.02% sodium azide and 50% glycerol pH 7.3, -20 degree C for 24 months (Avoid repeated freeze / thaw cycles.)
ISO Certification
Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.
Other Notes
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.
Applications Tested/Suitable for anti-GJC2 antibody
ELISA (EIA), Western Blot (WB)
NCBI/Uniprot data below describe general gene information for GJC2. It may not necessarily be applicable to this product.
NCBI Accession #
NP_065168.2
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NCBI GenBank Nucleotide #
NM_020435.3
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UniProt Secondary Accession #
O43440; Q7Z7J2; Q8IWJ9[Other Products]
UniProt Related Accession #
Q5T442[Other Products]
Molecular Weight
47,002 Da
NCBI Official Full Name
gap junction gamma-2 protein
NCBI Official Synonym Full Names
gap junction protein gamma 2
NCBI Official Symbol
GJC2??[Similar Products]
NCBI Official Synonym Symbols
Cx47; HLD2; GJA12; SPG44; CX46.6; LMPH1C; PMLDAR
??[Similar Products]
NCBI Protein Information
gap junction gamma-2 protein
UniProt Protein Name
Gap junction gamma-2 protein
UniProt Synonym Protein Names
Connexin-46.6; Cx46.6; Connexin-47; Cx47; Gap junction alpha-12 protein
Protein Family
Gap junction gamma-2 protein
UniProt Gene Name
GJC2??[Similar Products]
UniProt Synonym Gene Names
GJA12; Cx46.6; Cx47??[Similar Products]
UniProt Entry Name
CXG2_HUMAN
NCBI Summary for GJC2
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]
UniProt Comments for GJC2
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
Research Articles on GJC2
1. GJC2 promoter region mutation screening should be included in the evaluation of patients with unexplained hypomyelinating leukodystrophies.
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