2024年12月24日 · COL1A2 (Collagen Type I Alpha 2 Chain) is a Protein Coding gene. Diseases associated with COL1A2 include Osteogenesis Imperfecta, Type Iv and Osteogenesis …

Collagen alpha-2(I) chain is a protein that in humans is encoded by the COL1A2 gene. [5] [6] This gene encodes one of the chains for type I collagen, the fibrillar collagen found in most …

然而，与该基因突变相关的症状往往不如 I 型胶原蛋白 (COL1A1) 的 alpha1 链基因突变严重，这反映了 alpha2 链在基质完整性中的不同作用。 已经确定了该基因的三个转录物，这些转录物是 …

2005年1月28日 · COL1A1/2 osteogenesis imperfecta (COL1A1/2 -OI) is characterized by fractures with minimal or absent trauma, variable dentinogenesis imperfecta (DI), and, in adult …

Human collagen alpha-2 type I stimulates collagen synthesis, wound healing, and elastin production in normal human dermal fibroblasts (HDFs). Tooth ultrastructure of a novel …

The COL1A2 gene provides instructions for making part of a large molecule called type I collagen. Learn about this gene and related health conditions.

Ⅰ型胶原的α1链和α2链分别由两个不相连的基因编码，即COL1A1和COL1A2，分别位于17q21.3-q22和7q21.3-q22。 COL1A1基因大 小约18kb，含有 51个外显子。 COL1A2基因大小 …

2012年10月12日 · Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with …

Amino Acid Numbering System for COL1A2. Conventional numbering for the alpha-2(I) amino acid residues involves assigning number 1 to the first glycine of the triple-helical domain. This …

2021年12月10日 · Genetic mutations in Col1a1 or Col1a2 genes (or other genes affecting Col1 biosynthesis) in humans lead to multiple subtypes of Osteogenesis Imperfecta (OI) syndrome, …