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Collagen type IX alpha 3 chain (COL9A3)
- Target
- COL9A3
- Molecular classification
- Structural protein, Collagen family, Proteoglycan, Other (extracellular matrix component)
01
Overview
Collagen type IX alpha 3 chain (COL9A3) is a protein encoded by the COL9A3 gene, one of three alpha chains comprising type IX collagen, a key structural component of hyaline cartilage and the vitreous of the eye. Type IX collagen is a heterotrimeric molecule associated with type II collagen and is critical for cartilage integrity and biomechanical function as it bridges fibrillar collagen networks with proteoglycans. Mutations in COL9A3 are linked to various connective tissue disorders, such as multiple epiphyseal dysplasia, intervertebral disc disease, Stickler syndrome, and certain forms of congenital hearing impairment.
- Other names
- Collagen alpha-3(IX) chainCOL9A3EDM3IDDMEDFLJ90759DJ885L7.4.1STL6Collagen type IX proteoglycanCollagen, type IX, alpha 3CO9A3_HUMAN
02
Mechanism of action
Not applicable; no drugs are known to target COL9A3 directly
03
Biological functions
Cartilage structural integrityExtracellular matrix organizationSkeletal developmentInteraction with other extracellular matrix components (notably type II collagen, MATN3, COMP)Auditory system physiology (inner ear)Ocular tissue maintenance
04
Disease associations
Multiple epiphyseal dysplasia (dominant form, skeletal dysplasia)Intervertebral disc disease (disc degeneration, herniation)OsteoarthritisStickler syndrome (ocular and hearing disorders)Congenital hearing impairmentOther (skeletal/connective tissue disorders)
05
Safety considerations
Therapeutic targeting is not defined for COL9A3, but potential challenges would relate to deleterious effects on cartilage, skeletal structure, hearing, and vision due to loss of structural integrity
06
Biomarkers
COL9A3 genetic mutations may serve as biomarkers for: Multiple epiphyseal dysplasiaStickler syndromeIntervertebral disc disease
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