🧬 基因注释：COL6A1
官方名称：collagen type VI alpha 1 chain
功能摘要：The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008].
- HNRNPA2B1 综合评分: 0.350 · 证据 2 条
- HNRNPH1 综合评分: 0.350 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- Mbnl2 综合评分: 0.344 · 证据 1 条
- FUS 综合评分: 0.300 · 证据 1 条
- HNRNPK 综合评分: 0.300 · 证据 2 条
- RBFOX2 综合评分: 0.300 · 证据 2 条
- fus 综合评分: 0.300 · 证据 1 条
- PCBP2 综合评分: 0.262 · 证据 1 条
- RBM15 综合评分: 0.250 · 证据 2 条
- TIA1 综合评分: 0.250 · 证据 1 条
- MBNL2 综合评分: 0.200 · 证据 1 条
- Nova2 综合评分: 0.200 · 证据 1 条
- PRPF8 综合评分: 0.200 · 证据 1 条
- ELAVL3 综合评分: 0.162 · 证据 1 条
- NXF1 综合评分: 0.162 · 证据 1 条
- Rbpms 综合评分: 0.162 · 证据 1 条
- UPF1 综合评分: 0.162 · 证据 1 条
- ACIN1 综合评分: 0.150 · 证据 2 条
- CPSF6 综合评分: 0.150 · 证据 2 条
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