🧬 基因注释：COL4A3

官方名称：collagen type IV alpha 3 chain

功能摘要：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. In the Goodpasture syndrome, autoantibodies bind to the collagen molecules in the basement membranes of alveoli and glomeruli. The epitopes that elicit these autoantibodies are localized largely to the non-collagenous C-terminal domain of the protein. A specific kinase phosphorylates amino acids in this same C-terminal region and the expression of this kinase is upregulated during pathogenesis. This gene is also linked to an autosomal recessive form of Alport syndrome. The mutations contributing to this syndrome are also located within the exons that encode this C-terminal region. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jun 2010].

• HNRNPC 综合评分: 0.412 · 证据 2 条
• HNRNPK 综合评分: 0.362 · 证据 2 条
• HNRNPL 综合评分: 0.300 · 证据 2 条
• HNRNPU 综合评分: 0.300 · 证据 2 条
• PTBP1 综合评分: 0.300 · 证据 2 条
• RBM10 综合评分: 0.250 · 证据 2 条
• CELF2 综合评分: 0.150 · 证据 2 条
• Tardbp 综合评分: 0.150 · 证据 1 条
• U2af1 综合评分: 0.150 · 证据 1 条
• CPSF2 综合评分: 0.100 · 证据 1 条
• CSTF2T 综合评分: 0.100 · 证据 2 条
• EIF4A3 综合评分: 0.100 · 证据 2 条
• NXF1 综合评分: 0.100 · 证据 1 条
• Rbm7 综合评分: 0.100 · 证据 1 条
• Rbmx 综合评分: 0.100 · 证据 1 条
• U2af2 综合评分: 0.100 · 证据 1 条
• UPF1 综合评分: 0.100 · 证据 1 条

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