GJA1

GENE INFORMATION

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Gene name

GJA1 (HGNC Symbol)

Synonyms

CX43, GJAL, ODD, ODDD, ODOD, SDTY3

Description

Gap junction protein, alpha 1, 43kDa (HGNC Symbol)

Entrez gene summary

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]

Chromosome

6

Cytoband

q22.31

Chromosome location (bp)

121435692 - 121449727

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000152661 (version 78.38)

Entrez gene

2697

UniProt

P17302 (UniProt - Evidence at protein level)

neXtProt

NX_P17302

Antibodypedia

GJA1 antibodies
 

PROTEIN VIEW

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GJA1-001
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

GJA1-001 ENSP00000282561
ENST00000282561
P17302
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