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Rabbit Anti-Contactin 1/FITC Conjugated antibody
background:
The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
Function:
Contactins mediate cell surface interactions during nervous system development. Involved in the formation of paranodal axo-glial junctions in myelinated peripheral nerves and in the signaling between axons and myelinating glial cells via its association with CNTNAP1. Participates in oligodendrocytes generation by acting as a ligand of NOTCH1. Its association with NOTCH1 promotes NOTCH1 activation through the released notch intracellular domain (NICD) and subsequent translocation to the nucleus. Interaction with TNR induces a repulsion of neurons and an inhibition of neurite outgrowth.
Subcellular Location:
Cell membrane.
Tissue Specificity:
Strongly expressed in brain and in neuroblastoma and retinoblastoma cell lines. Lower levels of expression in lung, pancreas, kidney and skeletal muscle.
DISEASE:
Defects in CNTN1 are the cause of Compton-North congenital myopathy (CNCM) [MIM:612540]. CNCM is a familial lethal form of congenital onset muscle weakness, inherited in an autosomal-recessive fashion and characterized by a secondary loss of beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma, central nervous system involvement, and fetal akinesia.
Similarity:
Belongs to the immunoglobulin superfamily. Contactin family.
Contains 4 fibronectin type-III domains.
Contains 6 Ig-like C2-type (immunoglobulin-like) domains.
Database links:
Entrez Gene: 1272 Human
Entrez Gene: 2565 Mouse
Entrez Gene: 117258 Rat
Omim: 600016 Human
SwissProt: Q12860 Human
SwissProt: P12960 Mouse
SwissProt: Q63198 Rat
Unigene: 143434 Human
Unigene: 470343 Mouse
Unigene: 4911 Mouse
Unigene: 21397 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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