Name: Anti-GJC2 Antibody (CAB2885)
Brand: Cell Biology Antibodies 8
SKU: CAB2885
Availability: OutOfStock

Antibody Name:	Anti-GJC2 Antibody
Antibody SKU:	CAB2885
Antibody Size:	20uL, 50uL, 100uL
Application:	WB IHC
Reactivity:	Human, Mouse, Rat
Host Species:	Rabbit
Immunogen:	A synthetic peptide of human GJC2

Application:	WB IHC
Recommended Dilution:	WB 1:500 - 1:2000 IHC 1:50 - 1:200
Reactivity:	Human, Mouse, Rat
Positive Samples:	Mouse brain

Immunogen:	A synthetic peptide of human GJC2
Purification Method:	Affinity purification
Storage Buffer:	Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:	IgG
Sequence:	Email for sequence
Gene ID:	57165
Uniprot:	Q5T442
Cellular Location:	Cell junction, Cell membrane, Multi-pass membrane protein, gap junction
Calculated MW:	47kDa
Observed MW:	47kDa

Synonyms:	GJC2, CX46.6, Cx47, GJA12, HLD2, LMPH1C, PMLDAR, SPG44
Background:	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.

UniProt Protein Function:	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.
UniProt Protein Details:	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
NCBI Summary:	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 Code:	Q5T442
NCBI GenInfo Identifier:	74744875
NCBI Gene ID:	57165
NCBI Accession:	Q5T442.1
UniProt Secondary Accession:	Q5T442,O43440, Q7Z7J2, Q8IWJ9,
UniProt Related Accession:	Q5T442
Molecular Weight:	439
NCBI Full Name:	Gap junction gamma-2 protein
NCBI 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
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
UniProt Entry Name:	CXG2_HUMAN

	Western blot analysis of extracts of mouse brain, using GJC2 antibody (CAB2885) at 1:500 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 30s.
	Immunohistochemistry of paraffin-embedded human kidney cancer using GJC2 antibody (CAB2885) at dilution of 1:200 (40x lens).