🧬 基因注释：TMX3
官方名称：thioredoxin related transmembrane protein 3
功能摘要：This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The canonical protein encoded by this gene has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, one transmembrane domain and a C-terminal ER-retention sequence. This gene is expressed in many tissues but has its highest expression in heart and skeletal muscle. It is expressed in the retinal neuroepithelium and lens epithelium in the developing murine eye and haploinsufficiency of this gene in humans and zebrafish is associated with microphthalmia. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2017].
- FUS 综合评分: 0.474 · 证据 1 条
- HNRNPC 综合评分: 0.474 · 证据 2 条
- fus 综合评分: 0.474 · 证据 1 条
- HNRNPL 综合评分: 0.460 · 证据 2 条
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- Tardbp 综合评分: 0.408 · 证据 1 条
- PTBP1 综合评分: 0.362 · 证据 2 条
- Nova2 综合评分: 0.360 · 证据 1 条
- ELAVL3 综合评分: 0.358 · 证据 1 条
- HNRNPH1 综合评分: 0.350 · 证据 2 条
- HNRNPM 综合评分: 0.350 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- RBM10 综合评分: 0.312 · 证据 2 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
- RBFOX2 综合评分: 0.300 · 证据 2 条
- PCBP2 综合评分: 0.262 · 证据 1 条
- EWSR1 综合评分: 0.250 · 证据 2 条
该基因暂无关联疾病记录