Multiple epiphyseal dysplasia and pseudoachondroplasia genes (Homo sapiens)

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ArcPathVisio Brace Ellipse EndoplasmicReticulum GolgiApparatus HexagonPathVisio MimDegradation Mitochondria Octagon PentagonPathVisio Rectangle RoundedRectangle SarcoplasmicReticulum TriangleEquilateralEast TrianglePathVisio none Collagen IICOMPCOL9A1COL9A2COL9A3MATN1MATN3COL9A1COL9A2COL9A3Collagen IICOL9A1COL9A2COL9A3COMPCOL9A1COL9A2COL9A3COL9A1COL9A2COL9A3COL9A1COL9A2COL9A3MATN1MATN3Collagen IIOMIM:614284Stickler syndrome, type VOMIM:600204Epiphyseal dysplasia, multiple, 2OMIM:177170PseudoachondroplasiaOMIM:132400Epiphyseal dysplasia, multiple, 1OMIM:614134Stickler syndrome, type IVOMIM:614135Epiphyseal dysplasia, multiple, 6OMIM:120270Collagen, type IX, alpha-3OMIM:600969Epiphyseal dysplasia, multiple, 3OMIM:607078Epiphyseal dysplasia, multiple, 5OMIM:608728Spondyloepimetaphyseal dysplasia, matrilin-3 relatedName: Multiple epiphyseal dysplasia and pseudoachondroplasia genesOrganism: Homo sapiens


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.

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Quality Tags

Image:Curated.pngApproved version
Image:Wplogo_31.pngCommunity: Skeletal Dysplasia

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
128841
Approved
view02:45, 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
117775
Skeletal Dysplasia
view13:58, 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...
Name  ↓Type  ↓Database reference  ↓Comment  ↓
COL9A1GeneProductENSG00000112280 (Ensembl)
COL9A2GeneProductENSG00000049089 (Ensembl)
COL9A3GeneProductENSG00000092758 (Ensembl)
COMPGeneProductENSG00000105664 (Ensembl)
MATN1GeneProductENSG00000162510 (Ensembl)
MATN3GeneProductENSG00000132031 (Ensembl)

Annotated Interactions

No annotated interactions

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