GJB2

From Wikipedia, the free encyclopedia

Gap junction protein, beta 2, 26kDa

Identifiers

GJB2; KID; CX26; DFNA3; DFNB1; HID; NSRD1; PPK

External IDs

OMIM: 121011 MGI: 95720 HomoloGene: 2975

Gene ontology
Molecular Function:	• protein binding • gap-junction channel activity
Cellular Component:	• plasma membrane • connexon complex • integral to membrane
Biological Process:	• transport • cell-cell signaling • sensory perception of sound

Orthologs

Human

Mouse

Refseq

NM_004004 (mRNA)
NP_003995 (protein)

NM_008125 (mRNA)
NP_032151 (protein)

Location

Chr 13: 19.66 - 19.67 Mb

Chr 14: 56.05 - 56.06 Mb

Pubmed search

[1]

[2]

Gap junction protein, beta 2, 26kDa, also known as GJB2, is a human gene.

Gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels. Proteins, called connexins, purified from fractions of enriched gap junctions from different tissues differ. The connexins are designated by their molecular mass. Another system of nomenclature divides gap junction proteins into 2 categories, alpha and beta, according to sequence similarities at the nucleotide and amino acid levels. For example, CX43 (MIM 121014) is designated alpha-1 gap junction protein, whereas CX32 (GJB1; MIM 304040) and CX26 are called beta-1 and beta-2 gap junction proteins, respectively. This nomenclature emphasizes that CX32 and CX26 are more homologous to each other than either of them is to CX43.[supplied by OMIM]^[1]

[edit] See also

[edit] References

^ Entrez Gene: GJB2 gap junction protein, beta 2, 26kDa.

[edit] Further reading

Kenneson A, Van Naarden Braun K, Boyle C (2002). "GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.". Genet. Med. 4 (4): 258–74. doi:10.1097/01.GIM.0000020750.60733.CA. PMID 12172392.
Thalmann R, Henzl MT, Killick R, et al. (2003). "Toward an understanding of cochlear homeostasis: the impact of location and the role of OCP1 and OCP2.". Acta Otolaryngol. 123 (2): 203–8. PMID 12701741.
Yotsumoto S, Hashiguchi T, Chen X, et al. (2003). "Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome.". Br. J. Dermatol. 148 (4): 649–53. PMID 12752120.
Apps SA, Rankin WA, Kurmis AP (2007). "Connexin 26 mutations in autosomal recessive deafness disorders: a review.". International journal of audiology 46 (2): 75–81. doi:10.1080/14992020600582190. PMID 17365058.
Welch KO, Marin RS, Pandya A, Arnos KS (2007). "Compound heterozygosity for dominant and recessive GJB2 mutations: effect on phenotype and review of the literature.". Am. J. Med. Genet. A 143 (14): 1567–73. doi:10.1002/ajmg.a.31701. PMID 17431919.