🧬 基因注释：LMBR1
📝 官方信息
官方名称：limb development membrane protein 1
功能摘要：This gene encodes a member of the LMBR1-like membrane protein family. Another member of this protein family has been shown to be a lipocalin transmembrane receptor. A highly conserved, cis-acting regulatory module for the sonic hedgehog gene is located within an intron of this gene. Consequently, disruption of this genic region can alter sonic hedgehog expression and affect limb patterning, but it is not known if this gene functions directly in limb development. Mutations and chromosomal deletions and rearrangements in this genic region are associated with acheiropody and preaxial polydactyly, which likely result from altered sonic hedgehog expression. [provided by RefSeq, Jul 2008].
🎯 作为靶基因的剪接因子
- HNRNPM 综合评分: 0.474 · 证据 2 条
- RBFOX2 综合评分: 0.460 · 证据 2 条
- HNRNPA1 综合评分: 0.448 · 证据 2 条
- HNRNPH1 综合评分: 0.448 · 证据 2 条
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- HNRNPC 综合评分: 0.412 · 证据 2 条
- Tardbp 综合评分: 0.392 · 证据 1 条
- HNRNPL 综合评分: 0.362 · 证据 2 条
- HNRNPF 综合评分: 0.350 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- FUBP1 综合评分: 0.312 · 证据 2 条
- RBM10 综合评分: 0.312 · 证据 2 条
- RBM15 综合评分: 0.312 · 证据 2 条
- FUS 综合评分: 0.300 · 证据 1 条
- HNRNPD 综合评分: 0.300 · 证据 2 条
- HNRNPK 综合评分: 0.300 · 证据 2 条
- HNRNPU 综合评分: 0.300 · 证据 2 条
- KHSRP 综合评分: 0.300 · 证据 2 条
- PTBP1 综合评分: 0.300 · 证据 2 条
- SRSF2 综合评分: 0.300 · 证据 1 条
🏥 关联疾病
该基因暂无关联疾病记录