COL6A6 Antibody

1. Study identified SNPs in COL6A6 associated with atopic dermatitis suggesting that COL6A6 variants may constitute candidate risk factors for early-onset atopic dermatitis. PMID: 28125976
2. A whole-exome sequencing approach led to identification of a deletion in RHO through detection of a new linked variant in COL6A6 in autosomal dominant retinitis pigmentosa. PMID: 26321861
3. Reduced collagen VI alpha6 chain expression in the skeletal muscle is associated with collagen VI-related myopathies. PMID: 24907562
4. The collagen VI alpha6 chain, but not the alpha5 chain, is up-regulated in dystrophic muscles. PMID: 22226732
5. collagen VI alpha 6 is an important basal lamina component involved in the regulation of epithelial cell behavior most notably as a regulator of epithelial cell-fibronectin interactions PMID: 21406227
6. localization of alpha5, and to a lesser extent alpha6, is restricted to the papillary dermis, where the protein mainly colocalizes with collagen fibrils; both chains were found around blood vessels PMID: 20882040
7. The discovery of three additional collagen VI chains doubles the collagen VI family and adds a layer of complexity to collagen VI assembly and function in the extracellular matrix. PMID: 18400749

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HGNC: 27023

OMIM: 616613

KEGG: hsa:131873

STRING: 9606.ENSP00000351310

UniGene: Hs.591282