GJA5

From Wikipedia, the free encyclopedia
Jump to: navigation, search
"Cx40" redirects here. For the joystick, see Atari CX40.
GJA5
Identifiers
Aliases GJA5, ATFB11, CX40, gap junction protein alpha 5
External IDs MGI: 95716 HomoloGene: 3856 GeneCards: 2702
RNA expression pattern
PBB GE GJA5 214466 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_005266
NM_181703

NM_001271628
NM_008121

RefSeq (protein)

NP_005257.2
NP_859054.1

NP_001258557.1
NP_032147.1

Location (UCSC) Chr 1: 147.76 – 147.77 Mb Chr 3: 96.9 – 97.08 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Gap junction alpha-5 protein (GJA5), also known as connexin 40 (Cx40) — is a protein that in humans is encoded by the GJA5 gene.

Function[edit]

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. Mutations in this gene may be associated with atrial fibrillation. Alternatively spliced transcript variants encoding the same isoform have been described.[1]

GJA5 has been identified as the gene that is responsible for the phenotypes observed with congenital heart diseases on the 1q21.1 location. In case of a duplication of GJA5 tetralogy of Fallot is more common. In case of a deletion other congenital heart diseases than tetralogy of Fallot are more common.[2]

Related gene problems[edit]

See also[edit]

References[edit]

  1. ^ "Entrez Gene: GJA5 gap junction protein, alpha 5, 40kDa". 
  2. ^ Soemedi, R.; et al. (2011). "DPhenotype-Specific Effect of Chromosome 1q21.1 Rearrangements and GJA5 Duplications in 2436 Congenital Heart Disease Patients and 6760 Controls". Hum. Mol. Genet. doi:10.1093/hmg/ddr589. 

Further reading[edit]