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 ?
4]-induced upregulation of COL1A1 mRNA expression in mouse liver.
In addition to blocking the transactivation of quiescent HSCs, TQ significantly inhibited the fibrogenic activity in fully activated cells: TQ-treated LX2 cells showed significantly reduced mRNA expression levels of COL1A1 and COL3A1 compared to vehicle-treated cells.
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?
The accurate diagnosis of OI requires either sequencing of COL1A1 and COL1A2 or electrophoretic studies on collagen secreted by cultured skin fibroblasts, but these tests are not always readily available.
4] Human genes: COL1A1, collagen type 1, [alpha] 1; COL1A2, collagen type 1, [alpha] 2; LRP5, low-density lipoprotein receptor-related protein 5.
Cene Product size Primers CAPDH 238 hp f-GAGTCAACGGATTTGGTCGT r-TTGATTTTGGAGGGATCTCG RUNX2 247 bp f-CCTCGGAGAGGTACCAGATG r-TTCCCGACCTCCATCTACTG OSX 161 bp f-GCCAGAAGCTGTGAAACCTC r-GCTGCAAGCTCTCCATAACC ALP 182 bp f-CCTTGCTCACTCACTCACTCC r-TTTTTTTTGCCGTTCCAAAC COL1A1 108 bp f-AGGGCCAAGACGAAGACATCCC r-TGTCGCAGACGCAGATCCG Osteocalcin 152 bp f-GTGCAGAGTCCAGCAAGAAC r-TCAGCCAACTCGTCACAGTC OPG 168 bp f-AACGCCAACACAGCTCACAAGAAC r-TGCTCGAACGTGAGGTTAGCATGT RANKL 152 bp f-ATCGTTGGATCACAGCACATC r-AGACTCACTTTATGCGAACCAGA ER[alpha] 125 bp r-TGATGAAAGGTCGGATALGA r-AAGGTTGGCAGCTCTCATCT ER[beta] 165 bp f-TCTTGGAGAGCTGTTGGATG r-AAGTAGTTGCCAGGAGCATC
The study found that Pycnogenol elevated COL1A1 by 29% and COL1A2 by 41% and increased hyaluronic acid production in skin by 44%.
GCI's experienced R&D and biostatistics teams have put together an incredibly valuable resource in the form of the Global Repository(TM) that will greatly facilitate this process as Specialty prepares new tests, including its COL1A1 test, Osteoporosis GenotypR(TM)/Col1A1, for commercialization.
Specialty is also proceeding with validation and clinical utility studies of COL1A1 GenotypR(TM), a gene-based test for predisposition to bone fracture related to osteoporosis.
Gemini's patent on the COL1A1 polymorphism and its association with osteoporotic fracture risk is based on a discovery by researchers from the University of Aberdeen and validated by Gemini and its collaborators.
The COL1A1 polymorphism and association with osteoporotic fracture risk was originally discovered by researchers from the University of Aberdeen and validated by Gemini and its collaborators.