🧬 基因注释：PITX2
官方名称：paired like homeodomain 2
功能摘要：This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. The encoded protein acts as a transcription factor and regulates procollagen lysyl hydroxylase gene expression. This protein plays a role in the terminal differentiation of somatotroph and lactotroph cell phenotypes, is involved in the development of the eye, tooth and abdominal organs, and acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. Mutations in this gene are associated with Axenfeld-Rieger syndrome, iridogoniodysgenesis syndrome, and sporadic cases of Peters anomaly. A similar protein in other vertebrates is involved in the determination of left-right asymmetry during development. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008].
- HNRNPC 综合评分: 0.448 · 证据 2 条
- Tardbp 综合评分: 0.386 · 证据 1 条
- FUS 综合评分: 0.300 · 证据 1 条
- KHSRP 综合评分: 0.300 · 证据 2 条
- RBFOX2 综合评分: 0.300 · 证据 2 条
- fus 综合评分: 0.300 · 证据 1 条
- RBM10 综合评分: 0.250 · 证据 2 条
- RBM15 综合评分: 0.250 · 证据 2 条
- Rbmx 综合评分: 0.244 · 证据 1 条
- CPSF6 综合评分: 0.212 · 证据 2 条
- U2af1 综合评分: 0.212 · 证据 1 条
- PCBP2 综合评分: 0.200 · 证据 1 条
- UPF1 综合评分: 0.162 · 证据 1 条
- MSI1 综合评分: 0.150 · 证据 1 条
该基因暂无关联疾病记录