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Target intelligence / Profile preview
Collagen type IX alpha 1 chain (COL9A1)
- Target
- COL9A1
- Molecular classification
- Extracellular matrix protein, Collagen family, Structural protein
01
Overview
Collagen type IX alpha 1 chain (COL9A1) encodes one of the three genetically distinct alpha chains (α1(IX), α2(IX), α3(IX)) that constitute type IX collagen, a heterotrimeric protein primarily localized in hyaline cartilage and the vitreous of the eye. Type IX collagen is typically found alongside type II collagen and is more flexible than fibrillar collagens, functioning as a bridge that anchors type II collagen to other matrix elements. This flexibility is essential for normal cartilage structure and resilience; deficiency or mutation results in cartilage malformation and is implicated in skeletal disorders such as multiple epiphyseal dysplasia and Stickler syndrome[1][3][4][5]. No drugs are currently approved to target COL9A1, but its genetic analysis is used for diagnosis of relevant connective tissue diseases.
- Other names
- Collagen alpha-1(IX) chainAlpha 1 type IX collagenCartilage-specific short collagenCollagen IX, alpha-1 polypeptideCollagen type IX alpha 1Collagen, type IX, alpha 1DJ149L1.1.2FLJ40263MED
02
Mechanism of action
Not applicable; no approved drugs directly target COL9A1
03
Biological functions
Provides structural integrity to hyaline cartilageConfers tensile strength and flexibilityActs as a bridge connecting type II collagen to other cartilage componentsComponent of vitreous humor in the eye
04
Disease associations
Multiple epiphyseal dysplasia (dominant, due to splice-site mutations)Stickler syndrome (autosomal recessive forms, due to mutations)Osteoarthritis (association in humans)
05
Safety considerations
No reported therapeutic safety concerns, as it is not pharmacologically targeted; genetic deficiency or alteration may lead to impaired cartilage or skeletal development
06
Biomarkers
Mutational screening in COL9A1 can serve as a diagnostic biomarker for multiple epiphyseal dysplasia and some forms of Stickler syndrome
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