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Gap Junction Protein, Beta-2 OKDB#: 350
 Symbols: GJB2 Species: human
 Synonyms: GAP JUNCTION PROTEIN, 26-KD| CONNEXIN 26, CX26|  Locus: 13q11-q12 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment 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.

General function Channel/transport protein
Comment
Cellular localization
Comment
Ovarian function Follicle development, Primary follicle growth, Preantral follicle growth, Antral follicle growth, Follicle atresia
Comment Johnson et al.(1999) determined that there is expression of gap junctional proteins connexin 43, 32, and 26 throughout follicular development and atresia in cows.
Expression regulated by
Comment
Ovarian localization Oocyte, Granulosa, Theca
Comment Johnson et al. (1999) discovered that Cx26 was present in the oocyte of primordial and primary/secondary follicles, and in the granulosa and/or thecal cell layers of healthy antral follicles. The percentage of healthy antral follicles that expressed Cx26 also increased during follicular development, but decreased during atresia. Grazul-Bilska et al.(1998) found that Cx26 was present in the ovarian surface epithelium, stroma, and blood vessels within the stroma and hilus, and in the CL. In healthy antral follicles, Cx26 was present only in the theca layer.
Follicle stages Primary, Secondary, Antral
Comment
Phenotypes
Mutations 1 mutations

Species: human
Mutation name: None
type: None
fertility: None
Comment: Kelsell et al. (1997) found a T-to-C substitution in codon 34 (exon 1) of the GJB2 gene. The substitution resulted in a change in codon 34 from ATG (met) to ACG (thr). The M34T mutation segregated with the profound deafness phenotype but not with the skin disorder in the family studied.

Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
OMIM \ Animal Model
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created: Dec. 13, 1999, midnight by: Sung   email:
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last update: Jan. 24, 2008, 2:52 p.m. by: hsueh    email:



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