MED and pseudoachondroplasia genes (WP4789)
Adapted from: Genetic mouse models for the functional analysis of the perifibrillar components collagen IX, COMP and matrilin-3: Implications for growth cartilage differentiation and endochondral ossification by Frank Zaucke and Susanne Grässel [https://www.ncbi.nlm.nih.gov/pubmed/19554514]. Model for supramolecular assembly of cartilage fibrils and filaments into fibrillar networks: Matrilin-3 and COMP act as adaptor molecules to interconnect D-periodically banded fibrils with each other and/or with collagen VI beaded filaments to generate a heterotypic fibrillar network. The interaction may be mediated either by matrilin-1 / -3 binding directly to collagen IX or via COMP, which associates with the NC domains of collagen IX. Linked with a dotted arrow to the GeneProduct nodes are diseases caused by mutation in the respective gene.
AuthorsRitchie Lee , Kristina Hanspers , Friederike Ehrhart , Andreas Zankl , and Eric Weitz
Discuss this pathway
Check for ongoing discussions or start your own.
Are you planning to include this pathway in your next publication? See How to Cite and add a link here to your paper once it's online.
Pathway Ontologydisease pathway
- Genetic mouse models for the functional analysis of the perifibrillar components collagen IX, COMP and matrilin-3: Implications for growth cartilage differentiation and endochondral ossification. Zaucke F, Grässel S. Histol Histopathol. 2009 Aug;24(8):1067–79. PubMed Europe PMC Scholia