Multiple epiphyseal dysplasia and pseudoachondroplasia genes (Homo sapiens)

From WikiPathways

Revision as of 02:45, 23 February 2024 by Eweitz (Talk | contribs)
Jump to: navigation, search
1Collagen IICOL9A1MATN1COMPCOL9A2COL9A3MATN3COL9A1COL9A2COL9A3Collagen IICOL9A1COL9A2COL9A3COMPCOL9A1COL9A2COL9A3COL9A1COL9A2COL9A3COL9A1COL9A2COL9A3MATN1MATN3Collagen IIOMIM:614284Stickler syndrome, type VOMIM:177170PseudoachondroplasiaOMIM:614134Stickler syndrome, type IVOMIM:120270Collagen, type IX, alpha-3OMIM:607078Epiphyseal dysplasia, multiple, 5OMIM:614135Epiphyseal dysplasia, multiple, 6OMIM:608728Spondyloepimetaphyseal dysplasia, matrilin-3 relatedOMIM:132400Epiphyseal dysplasia, multiple, 1OMIM:600204Epiphyseal dysplasia, multiple, 2OMIM:600969Epiphyseal dysplasia, multiple, 3


Description

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 [1].

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.

Try the New WikiPathways

View approved pathways at the new wikipathways.org.

Quality Tags

Ontology Terms

 

Bibliography

  1. Zaucke F, Grässel S; ''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.''; Histol Histopathol, 2009 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
128841view02:45, 23 February 2024EweitzModified title
128840view02:45, 23 February 2024EweitzOntology Term : 'multiple epiphyseal dysplasia' added !
128839view02:44, 23 February 2024EweitzOntology Term : 'Stickler syndrome' added !
128838view02:41, 23 February 2024EweitzSoften disease color, economize layout, standardize case
117775view13:58, 22 May 2021EweitzModified title
110638view09:27, 23 May 2020AzanklModified description
109081view09:44, 16 February 2020FehrhartOntology Term : 'pseudoachondroplasia' added !
109080view09:44, 16 February 2020FehrhartOntology Term : 'disease pathway' added !
108992view00:44, 13 February 2020Khansperschanged board size
108836view01:08, 1 February 2020RleeModified description
108835view01:07, 1 February 2020RleeRemoved extra DataNode
108834view01:05, 1 February 2020RleeNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
COL9A1GeneProductENSG00000112280 (Ensembl)
COL9A2GeneProductENSG00000049089 (Ensembl)
COL9A3GeneProductENSG00000092758 (Ensembl)
COMPGeneProductENSG00000105664 (Ensembl)
MATN1GeneProductENSG00000162510 (Ensembl)
MATN3GeneProductENSG00000132031 (Ensembl)

Annotated Interactions

No annotated interactions

Personal tools