2024年12月24日 · COL4A3 (Collagen Type IV Alpha 3 Chain) is a Protein Coding gene. Diseases associated with COL4A3 include Alport Syndrome 3A, Autosomal Dominant and Alport Syndrome 3B, Autosomal Recessive. Among its related pathways are Collagen chain trimerization and Integrin Pathway.

IV 型胶原蛋白是基底膜的主要结构成分，是由 3 个 α 亚基组成的多聚体蛋白。 这些亚基由 6 个不同的基因编码，从 alpha 1 到 alpha 6，每个基因都可以与其他 2 个亚基形成三螺旋结构，形成 IV 型胶原蛋白。 该基因编码 alpha 3。 在 Goodpasture 综合征中，自身抗体与肺泡和肾小球基底膜中的胶原蛋白分子结合。 引发这些自身抗体的表位主要位于蛋白质的非胶原 C 末端结构域。 特定的激酶磷酸化同一 C 末端区域中的氨基酸，并且该激酶的表达在发病过程中上调。 该基因还与 …

Collagen alpha-3(IV) chain is a protein that in humans is encoded by the COL4A3 gene. [5] [6] Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits; this gene encodes the alpha 3 subunit.

COL4A3 overexpression in podocytes caused chain retention in the endoplasmic reticulum associated with activation of the unfolded protein response. Mutant COL4A3 chains differentially activated the UPR pathway in human and transfected mouse cells.

The COL4A3 gene provides instructions for making one piece of a protein called collagen IV. Specifically, this gene makes the alpha3 (IV) chain of collagen IV. This chain combines with two other types of alpha (IV) chains (the alpha4 and alpha5 chains) to …

Type IV collagen is found only in basement membranes, where it is the major structural component. COL4A3 is 1 of 6 alpha chains that form the heterotrimeric type IV collagen molecules. Tumstatin, a peptide fragment derived from the C-terminal noncollagenous (NC1) domain of COL4A3, has antiangiogenic activity.

它由六个不同的基因编码： IV型胶原蛋白 α1 (COL4A1)、 COL4A2 、 COL4A3 、 COL4A4 、 COL4A5 和 COL4A6。 1.临床意义. IV型胶原蛋白可维持细胞分裂和生长。 胶原蛋白分泌异常会影响基底膜的形成。 IV型胶原蛋白α1 (COL4A1)基因在胃癌中过表达。 COL4A1的突变会导致成人和儿童脑出血。 COL4A1和COL4A2突变可导致脑血管疾病。 靶向胶原蛋白IVα3链的致病性自身抗体会引起组织损伤，导致自身免疫性疾病综合症的发生。 COL4A5基因突变与眼-耳-肾综合征有 …

Multiple unselected cohorts with ESKF have found heterozygous pathogenic variants in COL4A3 and COL4A4 occur about as often as COL4A5 variants, which suggests that AD Alport syndrome causes ESKF as often as X-linked (XL) disease.

Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form a triple helix structure with 2 other subunits to form type IV collagen. This gene encodes alpha 3.

这个基因的人类同源物与Alport综合征；常染色体显性Alport综合征；常染色体隐性Alport综合征；良性家族性血尿；和终末期肾病有关。 与人类的COL4A3（胶原类型IVα3链）正交。 [由基因组资源联盟，2022年4月提供] 该基因暂未发现相关的转录本和蛋白质序列信息。 Lineage-specific biology revealed by a finished genome assembly of the mouse. 预测能激活整合素结合活性。 预测是细胞外基质结构成分。 参与细胞表面受体信号通路；肾小球基底膜发育；以及负调控血 …