GJA5

Source: Wikipedia, the free encyclopedia.
GJA5
Identifiers
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Ensembl
UniProt
RefSeq (mRNA)

NM_005266
NM_181703

NM_001271628
NM_008121

RefSeq (protein)

NP_005257
NP_859054

NP_001258557
NP_032147

Location (UCSC)Chr 1: 147.76 – 147.77 MbChr 3: 96.81 – 96.98 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

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.[5]

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.[6]

Related gene problems

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000265107 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000057123 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: GJA5 gap junction protein, alpha 5, 40kDa".
  6. PMID 22199024
    .

Further reading


This page is based on the copyrighted Wikipedia article: GJA5. Articles is available under the CC BY-SA 3.0 license; additional terms may apply.Privacy Policy