GJA1

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Gap junction protein, alpha 1, 43kDa
PDB rendering based on 1r5s.
Available structures: 1r5s
Identifiers
Symbol(s)	GJA1; CX43; DFNB38; GJAL; ODDD
External IDs	OMIM: 121014 MGI: 95713 HomoloGene: 136
Gene ontology Molecular Function: • signal transducer activity • protein binding • ion transmembrane transporter activity • gap-junction channel activity Cellular Component: • integral to plasma membrane • connexon complex • membrane Biological Process: • transport • muscle contraction • cell-cell signaling • heart development • sensory perception of sound • gap junction assembly • positive regulation of I-kappaB kinase/NF-kappaB cascade
RNA expression pattern
More reference expression data
Orthologs
	Human	Mouse
Entrez	2697	14609
Ensembl	ENSG00000152661	ENSMUSG00000050953
Uniprot	P17302	Q544I7
Refseq	NM_000165 (mRNA) NP_000156 (protein)	NM_010288 (mRNA) NP_034418 (protein)
Location	Chr 6: 121.8 - 121.81 Mb	Chr 10: 56.07 - 56.08 Mb
Pubmed search	[1]	[2]

Gap junction protein, alpha 1, 43kDa, also known as GJA1, is a human gene.

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.^[1]

[edit] See also

• Connexin
• Hypoplastic left heart syndrome

[edit] References

[edit] Further reading