ODDD; GJAL; GJA1; GJ-A1; Gap junction 43 kDa heart protein; Gap Junction Protein Alpha 1; Oculodentodigital Dysplasia; Syndactyly Type III
Species:
Human
Sample type:
tissue homogenates, cell lysates or other biological fluids.
Experimental method:
Sandwich
Shelf life:
12 months
Gene ID:
2697
UniProt ID:
P17302
Component:
1. Pre-coated, ready to use 96-well strip plate 1
2. Plate sealer for 96 wells 2
3. Standard 2
4. Diluents buffer: 1×45 mL
5. Detection Reagent A: 1×120 μL
6. Detection Reagent B: 1×120 μL
7. TMB Substrate: 1×9 mL
8. Stop Solution: 1×6 mL
9. Wash Buffer (30× concentrate): 1×20 mL
Background
This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia, autosomal recessive craniometaphyseal dysplasia and heart malformations.
