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Validated All-in-One™ qPCR Primer for COL8A2(NM_001294347.2) Search again
Product ID:
HQP151780
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
FECD, FECD1, PPCD, PPCD2
Gene Description:
collagen type VIII alpha 2 chain
Target Gene Accession:
NM_001294347.2(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Gene References into function
- The R155Q and T502M mutations of COL8A2 may not be the causative defect in the Japanese Fuchs' endothelial corneal dystrophy and posterior polymorphous dystrophy patients examined in this study.
- No pathogenic mutations were identified in the COL8A2 gene or in several positional candidate genes in a series of patients, indicating that other genetic factors are involved in the development of this autosomal dominant corneal dystrophy.
- A novel pathogenic L450W COL8A2 mutation was identified and its highly distinctive pathology characterized. This indicates that COL8A2 mutations give rise to a rare subtype of FCD (Fuchs corneal dystrophy).
- Alpha2(VIII) collagen supported endothelial cell attachment in a dose-dependent manner, with an 18-fold higher affinity for endothelial cells.
- The absence of pathogenic mutations identified in the COL8A1 or COL8A2 genes in affected members of 15 pedigrees with familial FECD (Fuchs endothelial corneal dystrophy) indicates that other genetic factors are involved.
- Microscopic and electron microscopic examination revealed pathological changes in Descemet's membrane of L450W COL8A2 mutants that were consistent with several-fold increased growth of the extracellular matrix.
- The absence of pathogenic mutations in COL8A1 and COL8A2 in patients with keratoconus indicates that other genetic factors are involved in the pathogenesis of this corneal ectatic disorder.
- description of the phenotype of early-onset Fuchs' endothelial corneal dystrophy in a British family, which is caused by a point mutation (resulting in p.L450W substitution) in COL8A2
- The previously reported mutations in the COL8A2 gene were not found in the 92 samples tested.