🧬 基因注释:ATAD3A
官方名称:ATPase family AAA domain containing 3A
功能摘要:This gene encodes a ubiquitously expressed mitochondrial membrane protein that contributes to mitochondrial dynamics, nucleoid organization, protein translation, cell growth, and cholesterol metabolism. This gene is a member of the ATPase family AAA-domain containing 3 gene family which, in humans, includes two other paralogs. Naturally occurring mutations in this gene are associated with distinct neurological syndromes including Harel-Yoon syndrome. High-level expression of this gene is associated with poor survival in breast cancer patients. A homozygous knockout of the orthologous gene in mice results in embryonic lethality at day 7.5 due to growth retardation and defective development of the trophoblast lineage. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017].
- HNRNPH1 综合评分: 0.474 · 证据 2 条
- HNRNPK 综合评分: 0.444 · 证据 2 条
- HNRNPL 综合评分: 0.398 · 证据 2 条
- RBFOX2 综合评分: 0.398 · 证据 2 条
- HNRNPA1 综合评分: 0.350 · 证据 2 条
- HNRNPA2B1 综合评分: 0.350 · 证据 2 条
- HNRNPC 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
- TIA1 综合评分: 0.312 · 证据 1 条
- FUS 综合评分: 0.300 · 证据 1 条
- PTBP1 综合评分: 0.300 · 证据 2 条
- SRSF9 综合评分: 0.300 · 证据 1 条
- fus 综合评分: 0.300 · 证据 1 条
- GRSF1 综合评分: 0.274 · 证据 2 条
- Srsf1 综合评分: 0.274 · 证据 1 条
- PRPF8 综合评分: 0.262 · 证据 1 条
- Rnps1 综合评分: 0.260 · 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