Target intelligence / Profile preview

Collagen type XII alpha 1 chain (COL12A1)

Target
COL12A1
Molecular classification
Collagen, Fibril-associated collagen with interrupted triple helices (FACIT), Extracellular matrix protein, Structural protein, Proteoglycan (sometimes classified as such due to domain structure)
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Overview

Collagen type XII alpha 1 chain is an extracellular matrix protein of the FACIT collagen family. It forms homotrimers and associates with type I collagen fibrils, modifying their interactions with the surrounding matrix. COL12A1 is essential for tissue integrity, tendon differentiation, and biomechanical strength; its absence is associated with disrupted cell polarity, poor matrix deposition, and tissue weakness. Mutations cause Bethlem myopathy 2 and Ullrich congenital muscular dystrophy 2. Dysregulation or high expression is associated with cancer progression, tissue remodeling, and increased metastatic potential. COL12A1 is not a typical therapeutic target but its expression status may be useful as a biomarker in oncological and connective tissue conditions

Other names
Collagen alpha-1(XII) chainCOL12A1Lcollagen type XII proteoglycanBA209D8.1BTHLM2DJ234P15.1EDSMYPUCMD2collagen, type XII, alpha 1
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Mechanism of action

Not applicable (direct pharmacological targeting mechanisms are not described for COL12A1)

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Biological functions

Extracellular matrix organizationMaintenance of tissue integrityCoordination of collagen fibril assemblyCell-matrix communicationRegulation of biomechanical strength of tissuesModulation of cell polarity and adhesionTissue remodeling during growth and differentiation
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Disease associations

Musculoskeletal diseases (Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2)Cancer (prognostic biomarker in gastric, colorectal, and ovarian cancers)Connective tissue disordersAnterior cruciate ligament rupture predisposition (in select populations)Diabetic nephropathy (profibrotic signaling)
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Safety considerations

Mutations lead to congenital muscular dystrophy and myopathies, posing therapeutic challenges in connective tissue repair or regenerationAberrant expression linked to tissue fragility and tumor progression
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Interacting drugs

No direct therapeutic drugs known to target COL12A1; expression may be modulated indirectly by drugs affecting connective tissue remodeling
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Biomarkers

COL12A1 expression (potential biomarker for aggressive disease phenotypes in some cancers such as gastric and colorectal carcinoma)

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