2016年12月25日 · SLC6A19 (Solute Carrier Family 6 Member 19) is a Protein Coding gene. Diseases associated with SLC6A19 include Hartnup Disorder and Iminoglycinuria. Among its related pathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Disorders of transmembrane transporters.

2024年8月22日 · The epithelial neutral amino acid transporter B 0 AT1 (SLC6A19) is the major transporter for the absorption of neutral amino acids in the intestine and their reabsorption in...

B0AT1 (SLC6A19) 在肠细胞中的表达和功能取决于辅助蛋白血管紧张素转换酶 2 (ACE2) 的存在，其除其他功能外，还充当 B0AT1 膜运输的伴侣。 ACE2 还是严重急性呼吸系统综合症冠状病毒 (SARS-CoV) 和导致 2019 年冠状病毒 (COVID-19) 大流行的 SARS-CoV-2 的细胞受体 [RefSeq 提供，2020 年 7 月] This gene encodes a system B (0) transmembrane protein that actively transports most neutral Amino acids across the apical membrane of epithelial cells.

上皮中性氨基酸转运蛋白 b0at1 （slc6a19） 是中性氨基酸在肠道中吸收及其在肾脏中重吸收的主要转运蛋白。 小鼠模型已经证明，缺乏 B0AT1 可以使罕见氨基酸代谢紊乱（如苯丙酮尿症和尿素循环紊乱）中升高的血浆氨基酸正常化，这意味着它们的治疗方法是一种 ...

This gene encodes a system B (0) transmembrane protein that actively transports most neutral amino acids across the apical membrane of epithelial cells. Mutations in this gene may result in Hartnup disorder, an inherited disease with symptoms such as …

Sodium-dependent neutral amino acid transporter B (0)AT1 is a protein that in humans is encoded by the SLC6A19 gene. [5] SLC6A19 is a system B (0) transporter that mediates epithelial resorption of neutral amino acids across the apical membrane in the kidney and intestine. [6][7] Mutations in the SLC6A19 gene cause Hartnup disease. [5][8]

B0AT1 (SLC6A19)和 SIT1 (SLC6A20)是 SLC6 家族的重要成员，它们通过与血管紧张素转换酶2 (ACE2) 结合定位到细胞膜上共同行使底物转运功能。 ACE2蛋白是一种调节血管紧张素 (Ang)成熟的肽酶，同时也是 SARS-CoV-2 入侵宿主细胞的主要膜表面受体。 B0AT1 在人体小肠和肾脏中负责中性氨基酸例如谷氨酰胺，甲硫氨酸、酪氨酸等的吸收。 SLC6A19 基因突变会导致遗传疾病 Hartnup Disease 的发生，该疾病患者的小肠和肾脏对中性氨基酸的转运降低，出现皮疹、神经 …

2025年2月8日 · We identified six mutations in SLC6A19 that cosegregated with disease in the predicted recessive manner, with most affected individuals being compound heterozygotes. This gene encodes a system B (0) transmembrane protein that actively transports most neutral amino acids across the apical membrane of epithelial cells.

slc6a19 是研究中一个关键验证的基因。这一基因编码一种氨基酸转运蛋白，主要负责肾脏和小肠中氨基酸的吸收。研究发现，slc6a19 的罕见变异不仅与氨基酸代谢物水平相关，还可能影响代谢通路中新底物的识别。

The disorder is caused by mutations in the neutral amino acid transporter B(0)AT1 (SLC6A19). To date 21 mutations have been identified in more than twenty families. SLC6A19 requires either collectrin or angiotensin-converting enzyme 2 for surface expression in …