COL1A2


Also found in: Acronyms.

COL1A2

A gene on chromosome 7q21.3 that encodes the pro-alpha2 chain of type-I collagen, the triple-helix (two-alpha1, one-alpha2 chain) form of collagen found in most connective tissue and abundant in bone, cornea, dermis and tendon.

Molecular pathology
COL1A2 mutations occur in osteogenesis imperfecta types I–IV, Ehlers-Danlos syndrome type VIIB, autosomal recessive Ehlers-Danlos syndrome (classic type), idiopathic osteoporosis and atypical Marfan syndrome.
References in periodicals archive ?
COMP and COL2A1 are 2 cartilage extracellular matrix degradation-related markers, and COL10A1 and COL1A2 are 2 chondrocyte hypertrophy-related markers.
These subgroups were characterized by divergent expression of, e.g., EMT-associated genes (CDH2, COL1A2, COL5A2, FN1, MAP1B, MMP3, SOX10, SPP1, ZEB1, and ZEB2), DNA repair genes (RAD51) (21) or targets relevant for cancer therapy.
Moreover, the study confirmed the final effector molecules under negative regulation by miR-29 were COL1A1 , COL1A2 , and COL3A1 .
Phenotypic Classification of Dentinogenesis Imperfecta Type Clinical Manifestations Involved Gene(s) I Osteogenesis imperfecta with opalescent teeth COL1A1, COL1A2 II Opalescent dentin DSPP III Shell teeth, affects Brandywine isolate DSPP Table 5.
As examples, Type I, the most abundant collagen type in the human body is made up of chains encoded by the genes COL1A1 and COL1A2. COL1A1 gene produces the pro-alpha 1 (I) chain and the COL1A2 gene produces the pro-alpha 2(I) chain.
Chen et al., "An insertion/deletion polymorphism in the 3' untranslated region of type I collagen a2 (COL1A2) is associated with susceptibility for hepatocellular carcinoma in a Chinese population," Cancer Genetics, vol.
OI Type IIA is an autosomal dominant condition caused by mutations in the collagen 1 alpha-1 chain (COL1A1) and collagen 1 alpha-2 chain (COL1A2) genes.
In addition, each time, a biopsy was obtained to assess gene expression of HAS-1 and COL1A1 and COL1A2. The study found that Pycnogenol elevated COL1A1 by 29% and COL1A2 by 41% and increased hyaluronic acid production in skin by 44%.
5-fluorouracil blocks transforming growth factor-beta-induced alpha 2 type I collagen gene (COL1A2) expression in human fibroblasts via c-Jun NH2-terminal kinase / activator protein-1 activation.
A total of 11.4% polymorphisms (25/220 SNPs) within the below listed 9 genes were found to have a statistically different distribution between cases and controls: NRC31, ANKH, VDR, ROR2, CALCR, IL6, COL1A2, CBG, and LRP4.