🧬 基因注释：SEPTIN5
官方名称：septin 5
功能摘要：This gene is a member of the septin gene family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is mapped to 22q11, the region frequently deleted in DiGeorge and velocardiofacial syndromes. A translocation involving the MLL gene and this gene has also been reported in patients with acute myeloid leukemia. Alternative splicing results in multiple transcript variants. The presence of a non-consensus polyA signal (AACAAT) in this gene also results in read-through transcription into the downstream neighboring gene (GP1BB; platelet glycoprotein Ib), whereby larger, non-coding transcripts are produced. [provided by RefSeq, Dec 2010].
- CSTF2T 置信度: 2.0
- DDX5 置信度: 2.0
- EIF4A3 置信度: 2.0
- HNRNPA1 置信度: 2.0
- HNRNPA2B1 置信度: 2.0
- HNRNPK 置信度: 2.0
- HNRNPM 置信度: 2.0
- PABPC4 置信度: 2.0
- PCBP1 置信度: 2.0
- PTBP1 置信度: 2.0
- RBFOX2 置信度: 2.0
- RBM15 置信度: 2.0
- RBM22 置信度: 2.0
- AQR 置信度: 1.0
- ELAVL3 置信度: 1.0
- FUS 置信度: 1.0
- MSI1 置信度: 1.0
- Mbnl2 置信度: 1.0
- PRPF8 置信度: 1.0
- Ptbp2 置信度: 1.0
该基因暂无关联疾病记录