Target intelligence / Profile preview

Collagen type VIII alpha 2 chain (COL8A2)

Target
COL8A2
Molecular classification
Structural protein, Extracellular matrix protein, Collagen family (specifically, non-fibrillar/short-chain collagen)
01

Overview

Collagen type VIII alpha 2 chain (COL8A2) is a major structural component of type VIII collagen, which, along with one or two alpha 1 chains, forms a triple helix procollagen molecule that is secreted and processed into mature collagen[1][2][4]. Type VIII collagen is primarily located in the corneal endothelium’s basement membrane (Descemet's membrane), supporting cellular architecture and fluid regulation essential for clear vision[1][4][5][6]. Mutations in COL8A2 are associated with inherited eye disorders such as early-onset Fuchs endothelial corneal dystrophy and posterior polymorphous corneal dystrophy type 2, characterized by progressive loss of corneal endothelial cells and vision impairment[1][4][6]. COL8A2 may also play a role in blood vessel integrity and smooth muscle cell biology[3]. There are no drugs known to directly modulate COL8A2; its main relevance is structural and as a genetic marker in corneal diseases.

Other names
Collagen alpha-2(VIII) chainEndothelial collagenCollagen, type VIII, alpha 2Collagen VIII, alpha-2 polypeptideCO8A2_HUMANCollagen alpha-2(VIII) chain precursor
02

Mechanism of action

Not applicable. No drugs known to act directly on COL8A2.

03

Biological functions

Extracellular matrix structural constituentFormation of basement membranesMaintenance of corneal endothelial cell integrity and functionRegulation of corneal hydration (fluid balance)Vascular smooth muscle cell proliferation and migration
04

Disease associations

Fuchs endothelial corneal dystrophy (FECD), particularly early-onset variantPosterior polymorphous corneal dystrophy type 2 (PPCD2)
05

Safety considerations

Therapeutic targeting is challenging due to the essential structural and support functions in the corneal endothelium.Mutations in COL8A2 can lead to corneal swelling, cell death, and irreversible visual impairmentInterventions affecting COL8A2 function could risk damaging normal corneal architecture.
06

Biomarkers

Mutation analysis of COL8A2 may be used to confirm genetic diagnosis for early-onset Fuchs endothelial corneal dystrophy, and for posterior polymorphous corneal dystrophy type 2Pathological changes (mutations) can serve as biomarkers for disease risk and progression in relevant corneal diseases.

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