🧬 基因注释：LOXL1
官方名称：lysyl oxidase like 1
功能摘要：This gene encodes a member of the lysyl oxidase family of proteins. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyzes the first step in the formation of crosslinks in collagen and elastin. The encoded preproprotein is proteolytically processed to generate the mature enzyme. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. Mutations in this gene are associated with exfoliation syndrome. [provided by RefSeq, Jan 2016].
- HNRNPA2B1 综合评分: 0.350 · 证据 2 条
- HNRNPC 综合评分: 0.350 · 证据 2 条
- HNRNPK 综合评分: 0.300 · 证据 2 条
- PTBP1 综合评分: 0.300 · 证据 2 条
- Mbnl2 综合评分: 0.298 · 证据 1 条
- Srsf3 综合评分: 0.274 · 证据 1 条
- Tardbp 综合评分: 0.212 · 证据 1 条
- U2af1 综合评分: 0.212 · 证据 1 条
- NXF1 综合评分: 0.162 · 证据 1 条
- MSI1 综合评分: 0.150 · 证据 1 条
- Srsf2 综合评分: 0.150 · 证据 1 条
- Srsf4 综合评分: 0.150 · 证据 1 条
- CSTF2T 综合评分: 0.100 · 证据 2 条
- Rbmx 综合评分: 0.100 · 证据 1 条
该基因暂无关联疾病记录