GJB1

Gap junction protein, beta 1, 32kDa
Identifiers
Symbols GJB1; CMTX; CMTX1; CX32
External IDs OMIM: 304040 MGI: 95719 HomoloGene: 137 GeneCards: GJB1 Gene
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 2705 14618
Ensembl ENSG00000169562 ENSMUSG00000047797
UniProt P08034 P28230
RefSeq (mRNA) NM_000166.5 NM_008124.2
RefSeq (protein) NP_000157.1 NP_032150.2
Location (UCSC) Chr X:
70.44 – 70.45 Mb		 Chr X:
98.57 – 98.58 Mb
PubMed search [1] [2]

Gap junction beta-1 protein is a protein that in humans is encoded by the GJB1 gene.[1]

Contents

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. doi:10.1016/0888-7543(92)90278-Z. PMID 1319395. 
  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. doi:10.1126/science.8266101. PMID 8266101. 
  3. ^ "Entrez Gene: GJB1 gap junction protein, beta 1, 32kDa". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2705. 
  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. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971. 

Further reading

External links