Gap Junction Alpha-1 (GJA1) ELISA Kit for Human

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; Motility/polarity/chemotaxis; Membrane protein, integral; Channel, misc.

Chromosomal Location of Human Ortholog: 6q22.31

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

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

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

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