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COL17A1

From SNPedia
is agene
is mentioned by
ClinVarCOL17A1
GeneCardsCOL17A1
DiseasesCOL17A1
wikipediaCOL17A1
googleCOL17A1
gopubmedCOL17A1
EVSCOL17A1
HEFalMpCOL17A1
MyGene2COL17A1
23andMeCOL17A1
# SNPs22
 Max MagnitudeChromosome positionSummary
rs10647937600104,034,179
rs1219127690104,034,711
rs1219127700104,038,409
rs1219127713104,034,193
rs1219127720104,041,526
rs1219127730104,053,072
rs1219127740104,072,062
rs13204480104,086,316
rs171163500104,033,992
rs2019409390104,060,114
rs7523179710104,043,852
rs7542898570104,074,232
rs7607149590104,037,688
rs7670832730104,053,064
rs7751967430104,080,649
rs7752514830104,034,101
rs7970450840104,043,576
rs7970451420104,039,613
rs8056980104,057,158
rs8057080104,064,575
rs8057220104,050,642
rs8860415550104,034,051

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