Connexin 43/GJA1 (GJA1) Antibody – Rabbit Polyclonal

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, autosomal recessive craniometaphyseal dysplasia and heart malformations. [provided by RefSeq, May 2014]

GJA1: an integral membrane protein of the connexin family, alpha-type (group II) subfamily. Hexamers of connexin-43 form connexons, which aggregate together to form gap junctions, 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.

Protein type: Membrane protein, multi-pass; Channel, misc.; Motility/polarity/chemotaxis; Membrane protein, integral

Chromosomal Location of Human Ortholog: 6q22.31

Cellular Component: Golgi apparatus; endoplasmic reticulum membrane; focal adhesion; contractile fiber; integral to plasma membrane; lysosome; early endosome; intermediate filament; fascia adherens; cytosol; lipid raft; Golgi membrane; multivesicular body; connexon complex; mitochondrial outer membrane; apical plasma membrane; plasma membrane; gap junction; lateral plasma membrane

Molecular Function: signal transducer activity; protein binding; ion transmembrane transporter activity; beta-tubulin binding; SH3 domain binding; gap junction channel activity; PDZ domain binding; receptor binding

Biological Process: lens development in camera-type eye; response to peptide hormone stimulus; apoptosis; heart development; neuron migration; milk ejection; signal transduction; positive regulation of vasodilation; elevation of cytosolic calcium ion concentration; muscle contraction; cell-cell signaling; negative regulation of cardiac muscle cell proliferation; transport; positive regulation of glomerular filtration; response to glucose stimulus; positive regulation of striated muscle development; heart looping; ATP transport; adult heart development; chronic inflammatory response; positive regulation of I-kappaB kinase/NF-kappaB cascade; gap junction assembly; epithelial cell maturation; in utero embryonic development; regulation of bone remodeling; skeletal muscle regeneration; positive regulation of insulin secretion; regulation of calcium ion transport; vascular transport; protein oligomerization; osteoblast differentiation; positive regulation of osteoblast differentiation; negative regulation of endothelial cell proliferation; positive regulation of protein catabolic process; positive regulation of vasoconstriction; blood vessel morphogenesis; embryonic digit morphogenesis; regulation of bone mineralization; neurite morphogenesis; response to pH

Disease: Syndactyly, Type Iii; Craniometaphyseal Dysplasia, Autosomal Recessive; Palmoplantar Keratoderma And Congenital Alopecia 1; Atrioventricular Septal Defect 3; Oculodentodigital Dysplasia; Erythrokeratodermia Variabilis Et Progressiva; Oculodentodigital Dysplasia, Autosomal Recessive; Hypoplastic Left Heart Syndrome 1