COL1A1


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COL1A1

A gene on chromosome 17q21.33 that encodes the pro-alpha1 chains of type-I collagen, whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in connective tissues, and is abundant in bone, cornea, dermis and tendon.

Molecular pathology
COL1A1 mutations are linked to osteogenesis imperfecta types I–IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome (classical type), Caffey disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17q21.33 (the location for COL1A1) and 22q12.3-q13.1|22q13.1 (the location of the gene for platelet-derived growth factor beta), are associated with dermatofibrosarcoma protuberans, a skin tumour driven by unregulated expression of the growth factor.
References in periodicals archive ?
Osteogenesis imperfecta type III: Mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible.
However, miR-29b acted as a protective regulator by targeting COL1A1 and COL1A2 , leading to the deactivation of ECM production.
The study found that Pycnogenol elevated COL1A1 by 29 percent and COL1A2 by 41 percent and increased hyaluronic acid production in skin by 44 percent.
Osteoporozda Aday Genler (15,25) GENIN ADII LOKASYON SEMBOL KROMOZOMAL Matriks protein molekulleri Osteokalsin BGLAP 1g25-q31 A2HS Glycoprotein AHSG 3g27 Osteopontin SPP1 4g21-q25 Osteonektin SPOCK 5g31,3-q32 Kollajen tip 1[alpha]1 COL1A1 17g21,3-g22,1 Kollajen tip 1[alpha]2 COL1A2 7g22,1 Matriksle iliskili enzimler Katepsin K CTSK 1g21 Alkalin fosfataz ALPL 1p36,1-p34 Karbonik Anhidraz II CA2 8g22 Matriks metalloproteinaz 3 MMP3 11g22,3 Lizil Oksidaz LOX 5g23,3-g31,2 Lizin hidroksilaz PLOD 1p36 Lizin hidroksilaz 2 PLOD2 3g23?
In this study, the cDNA encoding COL1A1 and COL1A2 genes were cloned and the recombinant plasmids were analysed by restriction digestion and sequencing.
Genetic research has been conducted on 475 females exhibiting LPH, CALCR, COL1A1, VDR genes, presence of which, according to previous research, is due to confirmed increased risk of osteoporosis.
Novel COL1A1 mutation (G599C) associated with mild osteogenesis imperfecta and dentinogenesis imperfecta.
The most commonly encountered forms of OI result from mutations in the COL1A1 [4] or COL1A2 genes, which encode the [alpha]1 and [alpha]2 chains of type 1 collagen.
VDR and COL1A1 gene variants were observed to play a significant role in the determination of BMD in those subjects with low calcium intake, showing that environmental factors can modify the effect of these genes on the phenotype [33].
Estudios recientes senalan que esta enfermedad puede deberse a mutaciones en el gen COL1A1 (colagena tipo I, alfa -1), cuyo locus es 17q21.
III] Chemokine (C-C motif) ligand 2 CCL2 Cell-cell signaling Collagen, type I, alpha 1 COL1A1 Extracellular matrix Connexin 43 GJA1 Cell-cell signaling GATA binding protein 6 GATA6 Transcription factor activity Insulin-like growth factor IGFBP5 Regulation of binding protein 5 cell growth Integrin, beta 3 ITGB3 Cell-matrix adhesion Matrix metalloproteinase 2 MMP2 Metallopeptidase activity Myosin, light polypeptide kinase MYLK Protein kinase activity Nucleoporin 88 kDa NUP88 Nuclear pore Protein kinase C, alpha PRKCA Cell proliferation Homo sapiens PAC clone RP5-1057Ml Unknown from 7, complete sequence [MMA.