GJA1 cDNA Clone – Gap Junction Protein, Alpha 1, 43kDa (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, integral; Motility/polarity/chemotaxis; Channel, misc.; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 6q22.31

Cellular Component: endoplasmic reticulum membrane; focal adhesion; gap junction; Golgi apparatus; Golgi membrane; integral to plasma membrane; lipid raft; mitochondrion; plasma membrane

Molecular Function: gap junction channel activity; ion transmembrane transporter activity; protein binding; signal transducer activity

Biological Process: cell-cell signaling; gap junction assembly; heart development; muscle contraction; negative regulation of cell growth; positive regulation of I-kappaB kinase/NF-kappaB cascade; signal transduction; 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