COL8A1 Antibody

1. COL8A1 was identified and proved to be correlated with the progression and prognosis of human colon adenocarcinoma, probably through regulating focal adhesion-related pathways. PMID: 29497907
2. High COL8A1 level is associated with chronic obstructive pulmonary disease and cancer. PMID: 27234597
3. The COL8A1 rs13095226 polymorphism is not associated with nAMD or PCV, which suggesting this gene maybe not a susceptibility gene locus for neovascular age-related macular degeneration (nAMD) or polypoidal choroidal vasculopathy (PCV) in Chinese subjects. PMID: 26617902
4. High COL8A1 expression is associated with early loss of kidney function. PMID: 26110394
5. Data indicate that complement factor H (CFH) R1210C and common variants in COL8A1 and RAD51B plus six genes contribute predictive information for advanced macular degeneration (AMD) beyond macular and behavioral phenotypes. PMID: 24498017
6. The results are consistent with the proposal that rare CNVs play a role in TS aetiology and suggest a possible role for rearrangements in the COL8A1 and NRXN1 gene regions. PMID: 23533600
7. In addition, eight genes classified as 'second tier' hits in the original study (PAX7, THADA, COL8A1/FILIP1L, DCAF4L2, GADD45G, NTN1, RBFOX3 and FOXE1) showed evidence of linkage and association in this replication sample. PMID: 23512105
8. The purpose of this study is to evaluate COL8A1 and COL8A2 as candidate genes for thin central corneal thickness in human primary open angle glaucoma patients. PMID: 21139683
9. 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. PMID: 16936088
10. 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. PMID: 17721297

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HGNC: 2215

OMIM: 120251

KEGG: hsa:1295

STRING: 9606.ENSP00000261037

UniGene: Hs.654548