COL17A1 Chromosome 10
Collagen type XVII alpha 1 chain
Upload your DNA to see your personal genotypes for variants in COL17A1.
What This Gene Does
This gene encodes the alpha chain of type XVII collagen. Unlike most collagens, collagen XVII is a transmembrane protein. Collagen XVII is a structural component of hemidesmosomes, multiprotein complexes at the dermal-epidermal basement membrane zone that mediate adhesion of keratinocytes to the underlying membrane. Mutations in this gene are associated with both generalized atrophic benign and junctional epidermolysis bullosa. Two homotrimeric forms of type XVII collagen exist. The full length form is the transmembrane protein. A soluble form, referred to as either ectodomain or LAD-1, is generated by proteolytic processing of the full length form. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"MicroRNA protein coding host genes|Transmembrane collagens"
Locus Type
gene with protein product
Location
10q25.1
Ensembl
ENSG00000065618
Associated Conditions (17)
Junctional epidermolysis bullosa
non-Herlitz type
COL17A1-related disorder
Thyroid cancer
nonmedullary
1
Inborn genetic diseases
Epithelial recurrent erosion dystrophy
Epidermolysis bullosa
junctional 4
intermediate
Amelogenesis imperfecta
Amelogenesis imperfecta type 1A
See cases
Amelogenesis imperfecta - hypoplastic autosomal dominant - local
Corneal dystrophy
Abnormality of the skin
Key Variants
RS138824013
Conflicting classifications of pathogenicity
Junctional epidermolysis bullosa, non-Herlitz type, COL17A1-related disorder
Health Risk
RS138844452
Conflicting classifications of pathogenicity
Junctional epidermolysis bullosa, non-Herlitz type, Junctional epidermolysis bullosa
Health Risk
RS139559830
Conflicting classifications of pathogenicity
Junctional epidermolysis bullosa, non-Herlitz type, Junctional epidermolysis bullosa
Health Risk
RS143399084
Conflicting classifications of pathogenicity
Inborn genetic diseases, COL17A1-related disorder, Inborn genetic diseases
Health Risk
RS146490594
Conflicting classifications of pathogenicity
Junctional epidermolysis bullosa, non-Herlitz type, Junctional epidermolysis bullosa
Health Risk
RS147011538
Conflicting classifications of pathogenicity
Junctional epidermolysis bullosa, non-Herlitz type, Junctional epidermolysis bullosa
Health Risk
RS148761230
Conflicting classifications of pathogenicity
Junctional epidermolysis bullosa, non-Herlitz type, Inborn genetic diseases
Health Risk
RS149685665
Conflicting classifications of pathogenicity
Junctional epidermolysis bullosa, non-Herlitz type, Junctional epidermolysis bullosa
Health Risk
RS151052547
Conflicting classifications of pathogenicity
Junctional epidermolysis bullosa, non-Herlitz type, Inborn genetic diseases
Health Risk
RS151271674
Conflicting classifications of pathogenicity
Junctional epidermolysis bullosa, non-Herlitz type, Inborn genetic diseases
Health Risk
RS181206306
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199555448
Conflicting classifications of pathogenicity
Junctional epidermolysis bullosa, non-Herlitz type, Epithelial recurrent erosion dystrophy
Health Risk
All Variants (192)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1277370326 | Health Risk | Pathogenic | — |
| RS1279680398 | Health Risk | Pathogenic | — |
| RS1285670016 | Health Risk | Pathogenic | — |
| RS1381042061 | Health Risk | Pathogenic | — |
| RS1458935187 | Health Risk | Pathogenic | — |
| RS1478885494 | Health Risk | Pathogenic | — |
| RS1490336426 | Health Risk | Pathogenic | — |
| RS1554849445 | Health Risk | Pathogenic | — |
| RS1554850239 | Health Risk | Pathogenic | — |
| RS1564673127 | Health Risk | Pathogenic | Epidermolysis bullosa, junctional 4, intermediate |
| RS1564684815 | Health Risk | Pathogenic | Junctional epidermolysis bullosa, non-Herlitz type, Junctional epidermolysis bullosa |
| RS1564685400 | Health Risk | Pathogenic | Epithelial recurrent erosion dystrophy, Amelogenesis imperfecta type 1A, Epithelial recurrent erosion dystrophy |
| RS1589562891 | Health Risk | Pathogenic | Epidermolysis bullosa, junctional 4, intermediate |
| RS1589572214 | Health Risk | Pathogenic | Junctional epidermolysis bullosa, non-Herlitz type, Junctional epidermolysis bullosa |
| RS199813733 | Health Risk | Pathogenic | — |
| RS2086249404 | Health Risk | Pathogenic | Junctional epidermolysis bullosa, Junctional epidermolysis bullosa |
| RS2086256572 | Health Risk | Pathogenic | Junctional epidermolysis bullosa, COL17A1-related disorder, Epidermolysis bullosa |
| RS2086265807 | Health Risk | Pathogenic | Amelogenesis imperfecta, Amelogenesis imperfecta |
| RS2086314131 | Health Risk | Pathogenic | — |
| RS2086359795 | Health Risk | Pathogenic | Junctional epidermolysis bullosa, Junctional epidermolysis bullosa |
| RS2086510950 | Health Risk | Pathogenic | — |
| RS2086518173 | Health Risk | Pathogenic | — |
| RS2086520075 | Health Risk | Pathogenic | Junctional epidermolysis bullosa, Junctional epidermolysis bullosa |
| RS2134563935 | Health Risk | Pathogenic | Epidermolysis bullosa, junctional 4, intermediate |
| RS2134581672 | Health Risk | Pathogenic | Epidermolysis bullosa, junctional 4, intermediate |
| RS2134612747 | Health Risk | Pathogenic | — |
| RS2493272751 | Health Risk | Pathogenic | — |
| RS2493273125 | Health Risk | Pathogenic | Epidermolysis bullosa, junctional 4, intermediate |
| RS2493277518 | Health Risk | Pathogenic | COL17A1-related disorder, Epidermolysis bullosa, junctional 4 |
| RS2493278296 | Health Risk | Pathogenic | — |
| RS2493278474 | Health Risk | Pathogenic | Amelogenesis imperfecta type 1A, Amelogenesis imperfecta type 1A |
| RS2493286164 | Health Risk | Pathogenic | — |
| RS2493288385 | Health Risk | Pathogenic | — |
| RS2493290370 | Health Risk | Pathogenic | — |
| RS2493290372 | Health Risk | Pathogenic | — |
| RS2493292694 | Health Risk | Pathogenic | — |
| RS2493293194 | Health Risk | Pathogenic | — |
| RS2493294655 | Health Risk | Pathogenic | Amelogenesis imperfecta type 1A, Amelogenesis imperfecta type 1A |
| RS2493298472 | Health Risk | Pathogenic | — |
| RS2493306888 | Health Risk | Pathogenic | — |
| RS2493307013 | Health Risk | Pathogenic | — |
| RS2493307221 | Health Risk | Pathogenic | — |
| RS2493318808 | Health Risk | Pathogenic | — |
| RS2493326161 | Health Risk | Pathogenic | — |
| RS2493335169 | Health Risk | Pathogenic | — |
| RS2493339279 | Health Risk | Pathogenic | Amelogenesis imperfecta, Amelogenesis imperfecta |
| RS2493340659 | Health Risk | Pathogenic | — |
| RS2493355998 | Health Risk | Pathogenic | — |
| RS2493360895 | Health Risk | Pathogenic | — |
| RS2493375263 | Health Risk | Pathogenic | Amelogenesis imperfecta type 1A, Amelogenesis imperfecta type 1A |