Target intelligence / Profile preview

Collagen type XXII alpha 1 chain (COL22A1)

Target
COL22A1
Molecular classification
Fibril-associated collagen with interrupted triple helices (FACIT), Extracellular matrix structural constituent
01

Overview

Collagen type XXII alpha 1 chain (COL22A1) is a minor collagen protein integrated into the extracellular matrix, notable for its localization at tissue junctions in muscle, tendons, heart, articular cartilage, and skin. It plays a key role in stabilizing myotendinous junctions, supporting skeletal muscle contraction, and contributing to vascular integrity. COL22A1 is concentrated in the basement membrane zone and acts as a ligand for cell adhesion processes. Genetic disruption or mutation, notably the E736D substitution, has been implicated in increased vascular fragility, leading to conditions such as intracranial aneurysms and hemorrhage in animal models. COL22A1 also mediates fibroblast-to-myofibroblast transition in fibrotic disease states (e.g., systemic sclerosis). There are currently no known drugs that target this protein, nor is it considered a canonical drug target such as a receptor or enzyme.

Other names
Collagen alpha-1(XXII) chainCOL22A1 proteinCollagen XXIICOMA1 protein
02

Biological functions

Stabilization of myotendinous junctionsStrengthening skeletal muscle attachments during contractile activityMaintaining vascular stability and integrityCell adhesion ligand for skin epithelial cells and fibroblastsRegulation of fibroblast to myofibroblast transition (in fibrosis)Conferring tensile strength to tissues
03

Disease associations

Muscular dystrophyIntracranial aneurysms (through loss-of-function mutations)Basaloid lung carcinoma (association)Systemic sclerosis (fibrosis, through fibroblast transition)
04

Biomarkers

Mutations suchs as rs142175725 (E736D) identified in familial intracranial aneurysm cases

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