Collagen alpha-1(VII) chain is a protein that in humans is encoded by the COL7A1 gene. [5] It is composed of a triple helical, collagenous domain flanked by two non-collagenous domains, and functions as an anchoring fibril between the dermal-epidermal junction in …

2024年12月24日 · COL7A1 (Collagen Type VII Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL7A1 include Epidermolysis Bullosa Pruriginosa and Transient Bullous Dermolysis Of The Newborn. Among its related pathways are Collagen chain trimerization and Integrin Pathway.

The COL7A1 gene provides instructions for making a protein called pro-α1(VII) chain that is used to assemble a larger protein called type VII collagen. Learn about this gene and related health conditions.

至少在某些营养不良性大疱性表皮松解病例中，人类vii型胶原（col7a1）基因是突变的场所。在这里，我们描述了整个col7a1的内含子/外显子组织，显示出具有118个外显子，比以前描述的任何基因都要多。尽管有这种复杂性，col7a1还是紧凑的。

COL7A1 mutation was diagnosed with next generation sequencing in patient with dystrophic epidermolysis bullosa. Collagen Type VII missense mutation is responsible for the development of recessive bullous epidermolysis.

2025年2月8日 · It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa.

COL7A1基因编码的Ⅶ型胶原蛋白是皮肤、粘膜和角膜上皮-基质锚附的重要成分。 它由三个相同的α胶原链组成，形成稳定的原纤维结构，这些结构是锚定原纤维的关键组成部分，确保皮肤等组织的完整性和强度。 COL7A1的突变会导致Ⅶ型胶原的缺失或功能异常，进而引发营养不良性大疱性表皮松解症（DEB）。 尽管COL7A1本身不直接参与信号转导，但作为细胞外基质的一部分，它可能与细胞表面受体相互作用，间接影响如整合素和转化生长因子β（TGF-β）/SMAD等信号通 …

The COL7A1 gene encodes the alpha-1 chain of type VII collagen. Collagen VII is the main constituent of anchoring fibrils, which in the skin are located below the basal lamina at the dermal-epidermal basement membrane zone.

VII 型胶原纤维由三个相同的 α 胶原链组成，局限于复层鳞状上皮细胞下方的基底区。 它在外部上皮细胞和下面的基质之间起到锚定原纤维的作用。 该基因的突变与所有形式的营养不良性大疱性表皮松解症有关。 然而，在没有突变的情况下，这种疾病的获得性形式可能是由对 VII 型胶原蛋白的自身免疫反应引起的。 [RefSeq 提供，2008 年 7 月] This gene encodes the alpha chain of …

2024年10月1日 · It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa.