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Target intelligence / Profile preview
Collagen alpha-1(VII) chain (COL7A1)
- Target
- COL7A1
- Molecular classification
- Extracellular matrix protein, Collagen, Structural protein
01
Overview
Collagen alpha-1(VII) chain, encoded by the COL7A1 gene, is a crucial component of anchoring fibrils that connect the epidermal basement membrane to the underlying dermis in stratified squamous epithelia. It is essential for maintaining skin and mucosal membrane integrity. Mutations in COL7A1 lead to various forms of dystrophic epidermolysis bullosa, while autoimmune responses against type VII collagen cause epidermolysis bullosa acquisita. As such, it is a therapeutic target, but there are no drugs that directly target it.
- Other names
- Collagen VIILong-chain collagenEBDCTEBR1LC collagenEBD1
02
Mechanism of action
N/A
03
Biological functions
Anchoring fibril formationCell adhesionExtracellular matrix organizationTissue integrity
04
Disease associations
Dystrophic Epidermolysis BullosaEpidermolysis Bullosa AcquisitaToenail dystrophyTransient bullous dermolysis of newborns
05
Safety considerations
Potential for off-target effects in therapies targeting collagenAutoimmune responses against engineered COL7A1Challenges in delivering functional COL7A1 to affected tissues
06
Biomarkers
COL7A1 mutations (for DEB diagnosis)Anti-type VII collagen antibodies (for EBA diagnosis)
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