GJB1

GJB1

Gap junction protein, beta 1, 32kDa
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols  ; CMTX; CMTX1; CX32
External IDs IUPHAR: GeneCards:
RNA expression pattern
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)
PubMed search

Gap junction beta-1 protein (GJB1), also known as connexin 32 (Cx32) — is a protein that in humans is encoded by the GJB1 gene.[1]

Function

Connexins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells.[2] For a general discussion of connexin proteins, see GJB2.[3]

In melanocytic cells GJB1 gene expression may be regulated by MITF.[4]

See also

References

  1. ^ Corcos IA, Lafreniere RG, Begy CR, Loch-Caruso R, Willard HF, Glover TW (Jul 1992). "Refined localization of human connexin32 gene locus, GJB1, to Xq13.1". Genomics 13 (2): 479–80.  
  2. ^ Bergoffen J, Scherer SS, Wang S, Scott MO, Bone LJ, Paul DL, Chen K, Lensch MW, Chance PF, Fischbeck KH (December 1993). "Connexin mutations in X-linked Charcot-Marie-Tooth disease". Science 262 (5142): 2039–42.  
  3. ^ "Entrez Gene: GJB1 gap junction protein, beta 1, 32kDa". 
  4. ^ Hoek KS, Schlegel NC, Eichhoff OM, et al. (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76.  

Further reading

External links

  • GeneReviews/NCBI/NIH/UW entry on Charcot-Marie-Tooth Neuropathy X Type 1
  • OMIM entries on Charcot-Marie-Tooth Neuropathy X Type 1