COL17A1
From SNPedia
| is a | gene |
| is | mentioned by |
| ClinVar | COL17A1 |
| GeneCards | COL17A1 |
| Diseases | COL17A1 |
| wikipedia | COL17A1 |
| COL17A1 | |
| gopubmed | COL17A1 |
| EVS | COL17A1 |
| HEFalMp | COL17A1 |
| MyGene2 | COL17A1 |
| 23andMe | COL17A1 |
| # SNPs | 22 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs1064793760 | 0 | 104,034,179 | |
| rs121912769 | 0 | 104,034,711 | |
| rs121912770 | 0 | 104,038,409 | |
| rs121912771 | 3 | 104,034,193 | |
| rs121912772 | 0 | 104,041,526 | |
| rs121912773 | 0 | 104,053,072 | |
| rs121912774 | 0 | 104,072,062 | |
| rs1320448 | 0 | 104,086,316 | |
| rs17116350 | 0 | 104,033,992 | |
| rs201940939 | 0 | 104,060,114 | |
| rs752317971 | 0 | 104,043,852 | |
| rs754289857 | 0 | 104,074,232 | |
| rs760714959 | 0 | 104,037,688 | |
| rs767083273 | 0 | 104,053,064 | |
| rs775196743 | 0 | 104,080,649 | |
| rs775251483 | 0 | 104,034,101 | |
| rs797045084 | 0 | 104,043,576 | |
| rs797045142 | 0 | 104,039,613 | |
| rs805698 | 0 | 104,057,158 | |
| rs805708 | 0 | 104,064,575 | |
| rs805722 | 0 | 104,050,642 | |
| rs886041555 | 0 | 104,034,051 |
The COL17A1 gene provides instructions for making a protein that is used to assemble type XVII collagen. Collagens are a family of proteins that strengthen and support connective tissues, such as skin, bone, tendons, and ligaments, throughout the body. In particular, type XVII collagen plays an essential role in strengthening and stabilizing the skin.GHR
More than 60 mutations in the COL17A1 gene have been identified in people with junctional epidermolysis bullosa (JEB), with the majority of mutations leading to the milder form of junctional epidermolysis bullosa, known as non-Herlitz JEB. This condition is quite rare, and inherited recessively.GHR
