🧬 基因注释：COL1A1
官方名称：collagen type I alpha 1 chain
功能摘要：This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. 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 VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008].
- HNRNPC 综合评分: 0.448 · 证据 2 条
- PTBP1 综合评分: 0.362 · 证据 2 条
- Rnps1 综合评分: 0.306 · 证据 1 条
- HNRNPK 综合评分: 0.300 · 证据 2 条
- EWSR1 综合评分: 0.250 · 证据 2 条
- MSI1 综合评分: 0.212 · 证据 1 条
- U2af1 综合评分: 0.212 · 证据 1 条
- Mbnl2 综合评分: 0.200 · 证据 1 条
- Snrpa 综合评分: 0.198 · 证据 1 条
- U2af2 综合评分: 0.198 · 证据 1 条
- NXF1 综合评分: 0.162 · 证据 1 条
- CSTF2 综合评分: 0.150 · 证据 2 条
- Srsf2 综合评分: 0.150 · 证据 1 条
- CPSF1 综合评分: 0.100 · 证据 1 条
- EIF4A3 综合评分: 0.100 · 证据 2 条
- RBM20 综合评分: 0.100 · 证据 2 条
- Rbm7 综合评分: 0.100 · 证据 1 条
- Sf3b1 综合评分: 0.100 · 证据 1 条
- Smn1 综合评分: 0.100 · 证据 1 条
- UPF1 综合评分: 0.100 · 证据 1 条
该基因暂无关联疾病记录