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Gap Junction Protein, Beta-1 OKDB#: 351
 Symbols: GJB1 Species: human
 Synonyms: GAP JUNCTION PROTEIN, 32-KD| CONNEXIN 32, CX32| LIVER CONNEXIN|  Locus: Xq13.1 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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R-L INTERACTIONS   MGI

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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, Antral follicle growth, Follicle atresia
Comment The pattern of expression of these Cx indicates that gap junctional proteins may be involved in the control of follicular growth and atresia in cows was shown by Johnson et al.(1999) .
Expression regulated by
Comment
Ovarian localization Granulosa, blood vessels
Comment Cx32 was detected in the blood vessels of ovarian stroma and in the CL as was determined by Grazul-Bilska et al. (1998)
Follicle stages Antral
Comment Cx32 was not present in healthy follicles but was present in granulosa cells of atretic antral, and especially small antral follicles as was shown by Johnson et al. (1999)
Phenotypes
Mutations 2 mutations

Species: human
Mutation name: None
type: None
fertility: None
Comment: Bergoffen et al. (1993) found a C-to-T transition in codon 142 of the CX32 gene, resulting in substitution of tryptophan for arginine.

Species: human
Mutation name: None
type: None
fertility: None
Comment: Bergoffen et al. (1993) found a G-to-A transition in codon 172 of the CX32 gene, resulting in substitution of serine for proline.

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
KEGG Pathways
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created: Dec. 13, 1999, midnight by: Sung   email:
home page:
last update: Aug. 13, 2001, 2:43 p.m. by: Sung    email:



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