GJA8

From Wikipedia, the free encyclopedia

Gap junction protein, alpha 8, 50kDa

Identifiers

GJA8; CAE; CAE1; CX50; CZP1; MP70

External IDs

OMIM: 600897 MGI: 99953 HomoloGene: 3857

Gene ontology
Molecular Function:	• channel activity • gap-junction channel activity
Cellular Component:	• integral to plasma membrane • connexon complex • membrane
Biological Process:	• transport • cell communication • visual perception

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_005267 (mRNA)
NP_005258 (protein)

NM_008123 (mRNA)
NP_032149 (protein)

Location

Chr 1: 145.84 - 145.85 Mb

Chr 3: 97 - 97.01 Mb

Pubmed search

[1]

[2]

Gap junction protein, alpha 8, 50kDa, also known as GJA8, is a human gene.^[1]

[edit] References

^ Entrez Gene: GJA8 gap junction protein, alpha 8, 50kDa.

[edit] Further reading

Cook PJ, Hamerton JL (1980). "Report of the committee on the genetic constitution of chromosome 1.". Cytogenet. Cell Genet. 25 (1-4): 9–20. PMID 396131.
Jarvis LJ, Louis CF (1993). "The permeability of reconstituted liposomes containing the purified lens fiber cell integral membrane proteins MP20, MP26 and MP70.". J. Membr. Biol. 130 (3): 251–63. PMID 1491428.
Church RL, Wang JH, Steele E (1995). "The human lens intrinsic membrane protein MP70 (Cx50) gene: clonal analysis and chromosome mapping.". Curr. Eye Res. 14 (3): 215–21. PMID 7796604.
Church RL, Wang JH, Steele E (1996). "The human lens intrinsic membrane protein MP70 (Cx50) gene: clonal analysis and chromosome mapping.". Curr. Eye Res. 14 (10): 979–81. PMID 8549164.
Geyer DD, Church RL, Steele EC, et al. (1998). "Regional mapping of the human MP70 (Cx50; connexin 50) gene by fluorescence in situ hybridization to 1q21.1.". Mol. Vis. 3: 13. PMID 9479004.
Shiels A, Mackay D, Ionides A, et al. (1998). "A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q.". Am. J. Hum. Genet. 62 (3): 526–32. PMID 9497259.
Dunia I, Recouvreur M, Nicolas P, et al. (1998). "Assembly of connexins and MP26 in lens fiber plasma membranes studied by SDS-fracture immunolabeling.". J. Cell. Sci. 111 ( Pt 15): 2109–20. PMID 9664032.
Hopperstad MG, Srinivas M, Spray DC (2000). "Properties of gap junction channels formed by Cx46 alone and in combination with Cx50.". Biophys. J. 79 (4): 1954–66. PMID 11023900.
Xu X, Berthoud VM, Beyer EC, Ebihara L (2002). "Functional role of the carboxyl terminal domain of human connexin 50 in gap junctional channels.". J. Membr. Biol. 186 (2): 101–12. doi:10.1007/s00232-001-0139-5. PMID 11944087.
Nielsen PA, Baruch A, Shestopalov VI, et al. (2004). "Lens connexins alpha3Cx46 and alpha8Cx50 interact with zonula occludens protein-1 (ZO-1).". Mol. Biol. Cell 14 (6): 2470–81. doi:10.1091/mbc.E02-10-0637. PMID 12808044.
Arora A, Minogue PJ, Liu X, et al. (2006). "A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract.". J. Med. Genet. 43 (1): e2. doi:10.1136/jmg.2005.034108. PMID 16397066.
Devi RR, Vijayalakshmi P (2006). "Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea.". Mol. Vis. 12: 190–5. PMID 16604058.
Zhang X, Zou T, Liu Y, Qi Y (2006). "The gating effect of calmodulin and calcium on the connexin50 hemichannel.". Biol. Chem. 387 (5): 595–601. doi:10.1515/BC.2006.076. PMID 16740131.
Ni X, Valente J, Azevedo MH, et al. (2007). "Connexin 50 gene on human chromosome 1q21 is associated with schizophrenia in matched case control and family-based studies.". J. Med. Genet. 44 (8): 532–6. doi:10.1136/jmg.2006.047944. PMID 17412882.
Kotsias BA, Salim M, Peracchia LL, Peracchia C (2007). "Interplay between cystic fibrosis transmembrane regulator and gap junction channels made of connexins 45, 40, 32 and 50 expressed in oocytes.". J. Membr. Biol. 214 (1): 1–8. doi:10.1007/s00232-006-0064-8. PMID 17546509.
Hansen L, Yao W, Eiberg H, et al. (2007). "Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.". Invest. Ophthalmol. Vis. Sci. 48 (9): 3937–44. doi:10.1167/iovs.07-0013. PMID 17724170.