🧬 基因注释：SLC16A2
官方名称：solute carrier family 16 member 2
功能摘要：This gene encodes an integral membrane protein that functions as a transporter of thyroid hormone. The encoded protein facilitates the cellular importation of thyroxine (T4), triiodothyronine (T3), reverse triiodothyronine (rT3) and diidothyronine (T2). This gene is expressed in many tissues and likely plays an important role in the development of the central nervous system. Loss of function mutations in this gene are associated with psychomotor retardation in males while females exhibit no neurological defects and more moderate thyroid-deficient phenotypes. This gene is subject to X-chromosome inactivation. Mutations in this gene are the cause of Allan-Herndon-Dudley syndrome. [provided by RefSeq, Mar 2012].
- CSTF2T 置信度: 2.0
- HNRNPA2B1 置信度: 2.0
- NOVA1 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
- RBM20 置信度: 2.0
- ELAVL3 置信度: 1.0
- FUS 置信度: 1.0
- MSI1 置信度: 1.0
- Nova2 置信度: 1.0
- Ptbp2 置信度: 1.0
- Rbmx 置信度: 1.0
- Rbpms 置信度: 1.0
- Srsf3 置信度: 1.0
- Srsf4 置信度: 1.0
- Srsf7 置信度: 1.0
- Tardbp 置信度: 1.0
- U2af1 置信度: 1.0
该基因暂无关联疾病记录