人 SIT1 抗体对
01AB03654
Signaling threshold-regulating transmembrane adapter 1 (SIT1) is a member of the solute carrier family and functions primarily as a proline transporter. This protein is characterized by its ability to facilitate the uptake of proline, an amino acid that plays essential roles in various physiological processes, including neurotransmission and cellular metabolism. SIT1 is particularly important in the central nervous system, where it regulates proline concentrations that modulate the activity of neurotransmitter receptors, such as glycine and NMDA receptors. Dysregulation of SIT1 has been linked to several diseases, including iminoglycinuria, a genetic disorder characterized by abnormal amino acid transport leading to elevated levels of proline and glycine in urine. Furthermore, polymorphisms in the SIT1 gene have been associated with neurological conditions and retinal diseases, influencing retinal pigment epithelium function and potentially contributing to degenerative macular diseases.
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技术参数
- 靶点基因名
- SIT1
- 基因别名
- SIT
- 蛋白别名
- signaling threshold regulating transmembrane adaptor 1; SIT1
- UniProt
- Q9Y3P8
- 物种
- Human
产品详情
- 靶点名称
- SIT1
- 蛋白名称
- signaling threshold regulating transmembrane adaptor 1
- 蛋白别名
- Signaling threshold-regulating transmembrane adapter 1; SHP2-interacting transmembrane adapter protein; Suppression-inducing transmembrane adapter 1; gp30/40
- 靶点基因名
- SIT1
- 基因别名
- SIT
- UniProt
- Q9Y3P8
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Signaling threshold-regulating transmembrane adapter 1 (SIT1) is a member of the solute carrier family and functions primarily as a proline transporter. This protein is characterized by its ability to facilitate the uptake of proline, an amino acid that plays essential roles in various physiological processes, including neurotransmission and cellular metabolism. SIT1 is particularly important in the central nervous system, where it regulates proline concentrations that modulate the activity of neurotransmitter receptors, such as glycine and NMDA receptors. Dysregulation of SIT1 has been linked to several diseases, including iminoglycinuria, a genetic disorder characterized by abnormal amino acid transport leading to elevated levels of proline and glycine in urine. Furthermore, polymorphisms in the SIT1 gene have been associated with neurological conditions and retinal diseases, influencing retinal pigment epithelium function and potentially contributing to degenerative macular diseases.