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Rabbit Anti-Connexin-32/FITC Conjugated antibody
background:
Vascular smooth muscle connexin-32 is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. Mutations in this gene have been associated with oculodentodigital dysplasia and heart malformations.
Function:
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.
Subunit:
A connexon is composed of a hexamer of connexins. Interacts with CNST.
Subcellular Location:
Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.
DISEASE:
Defects in GJB1 are the cause of Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]; also designated CMT-X. CMTX1 is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy. CMTX1 has both demyelinating and axonal features. Central nervous system involvement may occur.
Defects in GJB1 may contribute to the phenotype of Dejerine-Sottas syndrome (DSS) [MIM:145900]; also known as Dejerine-Sottas neuropathy (DSN) or hereditary motor and sensory neuropathy III (HMSN3). DSS is a severe degenerating neuropathy of the demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. DSS is characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal recessive forms of Dejerine-Sottas syndrome.
Similarity:
Belongs to the connexin family. Beta-type (group I) subfamily.
Database links:
Entrez Gene: 2705 Human
Entrez Gene: 14618 Mouse
Entrez Gene: 29584 Rat
Omim: 304040 Human
SwissProt: O18968 Cow
SwissProt: P08034 Human
SwissProt: P28230 Mouse
SwissProt: P08033 Rat
Unigene: 333303 Human
Unigene: 21198 Mouse
Unigene: 10444 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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