|GJA1||GJA1 (gap junction protein, α 1)|
|Molecule Type||Antigen Expression||Molecular Weight|
Min / Max
|Non-lineage Restricted Molecule|
|Heart||43 / 43|
|GJA1 is expressed in the heart and fetal cochlea.|
|MOLECULAR FAMILY NAME: Belongs to the connexin family.|
GJA1 is a multi-pass glycoprotein. It contains an extracellular domain, a transmembrane domain and a cytoplasmic domain.
POST-TRANSCRIPTIONAL MODIFICATION: No information.
POST-TRANSLATIONAL MODIFICATION: No information.
|LIGANDS AND MOLECULES ASSOCIATED WITH GJA1: No information.|
|GJA1 belongs to the connexin family α-type group 2 subfamily and contains a connexon composed of a hexamer of connexins. GJA1 is a component of gap junctions which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weigh materials from cell to cell. One gap junstion consists of a cluster two MW diffuse from one cell to a neighboring cell. GJA1 is targeted by several protein kinases that regulate myocardial cell-cell coupling. GJA1 may play a critical role in the physiology of hearing by participating in the recycling of potassium to the cochlear endolymph.|
BIOCHEMICAL ACIVITY: No information.
DISEASE RELEVANCE AND FUNCTION OF GJA1 IN INTACT ANIMAL
GJA1 is the major protein of gap junctions in the heart and is thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. Defects with GJA1 are the cause of autosomal dominant oculodentodigital dysplasia, also known as oculodentoosseous dysplasia, the cause of syndactyly type III, the cause of hypoplastic left heart syndrome and malformations and may be linked to non-syndromic autosomal recessive deafness.
PROTEINS AND DNA ELEMENTS WHICH REGULATE TRANSCRIPTION OF GJA1: No information.
SUBSTRATES: No information.
ENZYMES WHICH MODIFY GJA1: No information.
Database accession numbers
Revised June 25, 2008