ACS3; BPES2; BPES3; SCS; Class A basic helix-loop-helix protein 38; Acrocephalosyndactyly 3; Saethre-Chotzen Syndrome; Blepharophimosis,Epicanthus Inversus And Ptosis 3
Species:
Human
Sample type:
tissue homogenates, cell lysates or other biological fluids.
Experimental method:
Sandwich
Shelf life:
12 months
Gene ID:
7291
UniProt ID:
Q15672
Components:
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
The gene TUBB3 encodes a class III member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is primarily expressed in neurons and may be involved in neurogenesis and axon guidance and maintenance. Mutations in this gene are the cause of congenital fibrosis of the extraocular muscles type 3. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6.
