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- Table of Contents
Facts about Gap junction gamma-2 protein.
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Human | |
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Gene Name: | GJC2 |
Uniprot: | Q5T442 |
Entrez: | 57165 |
Belongs to: |
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connexin family |
connexin46.6; connexin-46.6; connexin-47; CX46.6; Cx47; Gap junction alpha-12 protein; gap junction gamma-2 protein; gap junction protein, alpha 12, 47kDa; gap junction protein, gamma 2, 47kDa; GJA12connexin 47; HLD2; LMPH1C; PMLDAR; SPG44MGC105119
Mass (kDA):
47.002 kDA
Human | |
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Location: | 1q42.13 |
Sequence: | 1; NC_000001.11 (228149930..228159826) |
Expressed in central nervous system, in sciatic nerve and sural nerve. Also detected in skeletal muscles.
Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.
This article discusses high-affinity prima antibodies for the detection GJC2 markers. This article also discusses the clinical application of this marker. If you are interested in learning more information about Steven Boster or his company, continue reading! This article also addresses Boster Bio ELISA products. This antibody is the best choice to treat patients with GJC2 deficiencies.
In immunohistochemistry, high-affinity primary antibodies are produced by conjugating peptides corresponding to the middle region of gap junction protein (GJC2) to biotin. This peptide sequence consists of APASRTGSATSAGTVGEQGRPGTHERPGKPRAGSEKGSASSRDGKTTVW. There are antibodies that are conjugated with biotin-labeled second antibodies on the market.
An array of methods can be used to analyze two antigens in a tissue section. The first can be removed using physical removal. The second can then be followed by the addition of directly conjugated antigens. To identify multiple antigens within a single tissue section, an indirect immunofluorescence round may be used. These combined methods allow for the simultaneous identification of up to 61 different antigens on a single piece of tissue. Additionally, digital analysis tools for histocytometry have been developed. These tools collectively are known as image-cytometry.
Elution methods must be optimized to detect the potency of an antibody. In order to be effective, the concentrations of the primary antibody should not exceed the manufacturer's recommendations. When dispensing the solution, users should use gloves and sterile pipettes. In addition, high-affinity secondary antibodies may increase background staining, while extremely high concentrations may decrease antigen detection.
As previously mentioned, the GJC2 gene is associated with a neurological disorder called spastic paraplegia type 44. A variant in the gene can also cause a type of hereditary Lymedema, which is a condition where the limbs swelling abnormally. GJC2 can also be associated with the autoimmune illness rheumatoid. This causes the immune systems to respond to different stimuli.
Several studies have also shown that high-affinity primary antibodies containing the GJC2 marker can decrease cross-reactivity between two different antigens. High-affinity primaries antibodies can cause difficulties in the separation of the antigen and antibody. Cross-reactive antibodies can be removed from an affinity columns using harsh, denaturing techniques. This marker can be used to elute antibodies and detect rheumatoid gene expression in various tissues.
The oligodendrocyte lineage cell marker SOX10 was comparable to actin, with mutant-type transfected cells displaying increased levels of the latter. In oligodendrocytes, the GJC2 marker also compared with myelin basic protein. The GJC2 marker can also be used to measure oligodendroglia like cells.
Spastic paraplegia 44, a neurodegenerative disease, is associated with the GJC2 genetic. Hereditary lymphedema is a condition that causes abnormal swelling in the limbs. These diseases can be diagnosed using the GJC2 marker, a genetic test. Ferrell et al. Ferrell et.al. This mutation is within a conserved motif known as the SRPTEK, which is involved in connexon docking. The affected individuals had uncomplicated lymphedema, and upper limb involvement occurred later. The authors hypothesized that the gene is a regulator of lymphatic channel activity and
The GJC2 gene is expressed in the peripheral nervous system, including the spinal cord. It is expressed at lower amounts than GJA2 in brain. It can also be amplified in healthy individuals' sciatic nerve. GJC2 has a greater role in oligodendrocyte and sperm homeostasis than GJB1.
A rare genetic variant known as PMLD (Pelizaeus-Merzbacher disease) causes an abnormality in the GJC2 gene. The disorder causes muscle stiffness and spasticity, impaired motor development, and progressive spasticity. GJC2 mutation causes decreased activity in the Ggliadenomyelin Protein, which inhibits the formation of gap junctions.
PMID: 15192806 by Uhlenberg B., et al. Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.
PMID: 19056803 by Orthmann-Murphy J.L., et al. Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.