基因注释:SLC6A20
官方信息
官方名称:solute carrier family 6 member 20
功能摘要:Transport of small hydrophilic substances across cell membranes is mediated by substrate-specific transporter proteins which have been classified into several families of related genes. The protein encoded by this gene belongs to the sodium:neurotransmitter symporter (SNF) family and functions as a proline transporter expressed in kidney and small intestine. Mutations in this gene are associated with Hyperglycinuria and Iminoglycinuria. [provided by RefSeq, Jul 2020].
作为靶基因的剪接因子
- U2af1 综合评分: 0.150 · 证据 1 条
关联疾病
该基因暂无关联疾病记录