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 ?
Sequence variants in six genes were associated with decreased SF risk: NR3C1, AR, VDR, CALCR, COL1A2, and LRP4 (Table 2).
In this pilot study the association of SF with 25 sequence variants within the following 9 genes: NRC31, ANKH, VDR, ROR2, CALCR, IL6, COL1A2, CBG, and LRP4 were assessed.
There is no specific, noninvasive, and inexpensive laboratory test for OI; accurate diagnosis requires either sequencing of COL1A1 and COL1A2 or electrophoretic studies on collagen secreted by cultured skin fibroblasts (5).
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.
2007), in human dermal fibroblast cells by human COL1A2 promoter luciferase assay in a concentration dependent manner.