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 Imperfecta, Type Iii. Among its related pathways are Collagen chain trimerization and Enhanced binding of GP1BA variant to VWF multimer:collagen.

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 connective tissues.

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，这些转录物是由于使用交替的聚腺苷酸化信号而产生的。 [R. Dalgleish 提供，2008 年 2 月] This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two …

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 years, hearing loss.

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 COL1A2 mutation expanding its genotypic and phenotypic spectra.

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基因大小约38kb，含有 52个外显子。

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 osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome.

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 numbering system is used in the list of allelic variants below. Osteogenesis Imperfecta

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, a bone disease referred to...