MGP Database

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MGP001208

Record overview

MGPD IDMGP001208
Gene ID2697
SpeciesHomo sapiens (Human)
Gene Namegap junction protein, alpha 1, 43kDa
Gene Symbol GJA1
SynonymsHSS; CMDR; CX43; GJAL; ODDD; AVSD3; HLHS1;
Alternate namesgap junction alpha-1 protein; connexin 43; connexin-43; gap junction 43 kDa heart protein;
Chromosome6
Map Location6q22.31
SummaryThis 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]
OrthologsView orthologs and multiple alignments for GJA1

Proteins

gap junction alpha-1 protein
Refseq ID:NP_000156
Protein GI:4504001
UniProt ID:P17302
mRNA ID:NM_000165
Length:382
RefSeq Status:
MGDWSALGKLLDKVQAYSTAGGKVWLSVLFIFRILLLGTAVESAWGDEQSAFRCNTQQPGCENVCYDKSFPISHVRFWVLQIIFVSVPTLLYLAHVFYVM
RKEEKLNKKEEELKVAQTDGVNVDMHLKQIEIKKFKYGIEEHGKVKMRGGLLRTYIISILFKSIFEVAFLLIQWYIYGFSLSAVYTCKRDPCPHQVDCFL
SRPTEKTIFIIFMLVVSLVSLALNIIELFYVFFKGVKDRVKGKSDPYHATSGALSPAKDCGSQKYAYFNGCSSPTAPLSPMSPPGYKLVTGDRNNSSCRN
YNKQASEQNWANYSAEQNRMGQAGSTISNSHAQPFDFPDDNQNSKKLAAGHELQPLAIVDQRPSSRASSRASSRPRPDDLEI
 
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