Rabbit GJC2 Polyclonal Antibody | anti-GJC2 antibody

GJC2 Polyclonal Antibody

Cat. Num. AAA126687

• Gene Names: GJC2; Cx47; HLD2; GJA12; SPG44; CX46.6; LMPH1C; PMLDAR
• Reactivity: Human, Mouse, Rat
• Applications: Western Blot
• Purity: Affinity Purification
• Synonyms: GJC2; Polyclonal Antibody; GJC2 Polyclonal Antibody; Cx47; HLD2; GJA12; SPG44; CX46.6; LMPH1C; PMLDAR; anti-GJC2 antibody

• Host: Rabbit
• Reactivity: Human, Mouse, Rat
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: Affinity Purification
• Concentration: 1mg/ml (varies by lot)
• Sequence Length: 439

• Applicable Applications for anti-GJC2 antibody: Western Blot (WB)
• Application Notes: WB: 1:500 - 1:2000
• Species: Human
• Route: Synthetic Peptide
• Immunogen: A synthetic peptide of human GJC2
• Calculated Molecular Weight: 47kDa
• Preparation and Storage: Store at -20 degree C (regular) or -80 degree C (long term). Avoid freeze / thaw cycles.; Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.

Western Blot (WB)

(Western blot analysis of extracts of mouse brain, using GJC2 antibody at 1:500 dilution.Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (MBS128200) at 1:10000 dilution.Lysates/proteins: 25ug per lane.Blocking buffer: 3% nonfat dry milk in TBST.Detection: ECL Basic Kit.Exposure time: 30s.)

Immunohistochemistry (IHC)

(Immunohistochemistry of paraffin-embedded human kidney cancer using GJC2 antibody at dilution of 1:200 (40x lens).)

Related Product Information for anti-GJC2 antibody

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.

Product Categories/Family for anti-GJC2 antibody

Polyclonal

NCBI and Uniprot Product Information

• NCBI GI #: 74744875
• NCBI GeneID: 57165
• UniProt Accession #: Q5T442; O43440; Q7Z7J2; Q8IWJ9
• Molecular Weight: 439
• NCBI Official Full Name: Gap junction gamma-2 protein
• NCBI Official Synonym Full Names: gap junction protein, gamma 2, 47kDa
• NCBI Official Symbol: GJC2
• NCBI Official Synonym Symbols: Cx47; HLD2; GJA12; SPG44; CX46.6; LMPH1C; PMLDAR
• NCBI Protein Information: gap junction gamma-2 protein; connexin-47; connexin-46.6; gap junction alpha-12 protein
• UniProt Protein Name: Gap junction gamma-2 protein
• Protein Family: Gap junction gamma-2 protein
• UniProt Gene Name: GJC2
• UniProt Synonym Gene Names: GJA12; Cx46.6; Cx47
• UniProt Entry Name: CXG2_HUMAN

NCBI Description

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 Description

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