Home
>
Product
>
Antibody
>
Rabbit Anti-Phospho-Connexin 43 (Ser368)/FITC Conjugated antibody
background:
This gene 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 encoded 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. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia and heart malformations. [provided by RefSeq].
Function:
Gap junction protein that acts as a regulator of bladder capacity. A 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 critical role in the physiology of hearing by participating in the recycling of potassium to the cochlear endolymph. Negative regulator of bladder functional capacity: acts by enhancing intercellular electrical and chemical transmission, thus sensitizing bladder muscles to cholinergic neural stimuli and causing them to contract.
Subunit:
A connexon is composed of a hexamer of connexins. Interacts (via SLCterminus) with TJP1. Interacts (via SLCterminus) with SRC (via SH3 domain). Interacts with UBQLN4. Interacts with SGSM3. Interacts with KIAA1432/CIP150. Interacts with CNST and CSNK1D.
Subcellular Location:
Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.
Tissue Specificity:
Expressed in the heart and fetal cochlea.
Post-translational modifications:
Phosphorylated at Ser-368 by PRKCG; phosphorylation induces disassembly of gap junction plaques and inhibition of gap junction activity. Phosphorylation at Ser-325, Ser-328 and Ser-330 by CK1 modulates gap junction assembly.
DISEASE:
Defects in GJA1 are the cause of autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]; also known as oculodentoosseous dysplasia. ODDD is a highly penetrant syndrome presenting with craniofacial (ocular, nasal, dental) and limb dysmorphisms, spastic paraplegia, and neurodegeneration. Craniofacial anomalies tipically include a thin nose with hypoplastic alae nasi, small anteverted nares, prominent columnella, and microcephaly. Brittle nails and hair abnormalities of hypotrichosis and slow growth are present. Ocular defects include microphthalmia, microcornea, cataracts, glaucoma, and optic atrophy. Syndactyly type 3 and conductive deafness can occur in some cases. Cardiac abnormalities are observed in rare instances.
Similarity:
Belongs to the connexin family. Alpha-type (group II) subfamily.
Database links:
Entrez Gene: 2697 Human
Entrez Gene: 281193 Cow
Entrez Gene: 403418 Dog
Entrez Gene: 1929 Mouse
Entrez Gene: 24392 Rat
Omim: 121014 Human
SwissProt: P18246 Cow
SwissProt: Q6S9C0 Dog
SwissProt: P17302 Human
SwissProt: P23242 Mouse
SwissProt: Q6TYA7 Rabbit
SwissProt: P08050 Rat
Unigene: 74471 Human
Unigene: 378921 Mouse
Unigene: 10346 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
间隙连接蛋白-43(Gap junction alpha-1 protein; GJA-1; (Vascular smooth muscle connexin-43))是构成细胞间的通道，小分子成份可以借此在细胞间扩散。Connexin-43也是心肌缝隙连接的主要蛋白之一。
此外，星形细胞、成纤维细胞、平滑肌和肾等组织也有表达Connexin 43.
|
|
