🧬 基因注释：SLC29A3
📝 官方信息
官方名称：solute carrier family 29 member 3
功能摘要：This gene encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with H syndrome, which is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism. A related disorder, PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus), has also been associated with mutations at this locus. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2010].
🎯 作为靶基因的剪接因子
- CSTF2 置信度: 2.0
- CSTF2T 置信度: 2.0
- HNRNPA2B1 置信度: 2.0
- HNRNPK 置信度: 2.0
- MBNL1 置信度: 2.0
- PTBP1 置信度: 2.0
- RBFOX2 置信度: 2.0
- RBM10 置信度: 2.0
- RBM15 置信度: 2.0
- FUS 置信度: 1.0
- Mbnl2 置信度: 1.0
- NXF1 置信度: 1.0
- PCBP2 置信度: 1.0
- PRPF8 置信度: 1.0
- Ptbp2 置信度: 1.0
- Rbm7 置信度: 1.0
- Rbmx 置信度: 1.0
- Rbpms 置信度: 1.0
- Srsf1 置信度: 1.0
- TIA1 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录