🧬 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].

• Ptbp2 综合评分: 0.360 · 证据 1 条
• HNRNPA2B1 综合评分: 0.350 · 证据 2 条
• FUS 综合评分: 0.300 · 证据 1 条
• PTBP1 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
• Tardbp 综合评分: 0.274 · 证据 1 条
• NOVA1 综合评分: 0.262 · 证据 2 条
• RBM10 综合评分: 0.250 · 证据 2 条
• RBM15 综合评分: 0.250 · 证据 2 条
• Srsf3 综合评分: 0.212 · 证据 1 条
• Nova2 综合评分: 0.200 · 证据 1 条
• MSI1 综合评分: 0.150 · 证据 1 条
• Srsf4 综合评分: 0.150 · 证据 1 条
• U2af1 综合评分: 0.150 · 证据 1 条
• CSTF2T 综合评分: 0.100 · 证据 2 条
• ELAVL3 综合评分: 0.100 · 证据 1 条
• RBM20 综合评分: 0.100 · 证据 2 条
• Rbmx 综合评分: 0.100 · 证据 1 条
• Rbpms 综合评分: 0.100 · 证据 1 条

该基因暂无关联疾病记录