2024年12月25日 · SLC3A1 (Solute Carrier Family 3 Member 1) is a Protein Coding gene. Diseases associated with SLC3A1 include Cystinuria and Nephrolithiasis. Among its related pathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Disorders of transmembrane transporters.

Elevated SLC3A1 expression accelerated the cysteine uptake and the accumulation of reductive glutathione (GSH), leading to reduced reactive oxygen species (ROS). We found a novel mutation in the acceptor region in exon 1 (SLC3A1 gene) and detected a heterozygosity status for the described patients.

CSNU 患者基因突变及基因分型一直备受临床关注, 本文针对CSNU 相关基因SLC3A1 和SLC7A9的遗传突变情况、 基因型- 表型相关性及近期新药研究进展作一综述。 Abstract: Cystinuria is a rare clinical genetic disease caused by mutations in two hot genes, Solute Carrier Family 3 Member 1 (SLC3A1) and Solute Carrier Family 7 Member 9 (SLC7A9).

The SLC3A1 gene provides instructions for producing one part (subunit) of a protein made primarily in the kidneys. This subunit joins with another protein subunit, produced from the SLC7A9 gene, to form a transporter protein complex.

该基因编码一种 II 型膜糖蛋白，它是肾氨基酸转运蛋白的组成部分之一，可在肾小管和肠道中转运中性和碱性氨基酸。 该基因的突变和缺失与胱氨酸尿症有关。 已经描述了选择性剪接的转录本变体，但尚未确定它们的生物学有效性。 [RefSeq 提供，2008 年 7 月] This gene encodes a type II membrane glycoprotein which is one of the components of the renal amino acid transporter which transports neutral and basic Amino acids in the renal tubule and intestinal tract.

HGNC Approved Gene Symbol: SLC3A1. Cytogenetic location: 2p21 Genomic coordinates (GRCh38) : 2:44,275,480-44,322,437 (from NCBI) The SLC3A1 gene encodes the rBAT protein, which together with b (0,+)AT (SLC7A9; 604144) forms a renal amino acid transporter (summary by Font-Llitjos et al., 2005, Bartoccioni et al., 2008).

2021年9月14日 · slc3a1是指溶质载体家族3成员1(slc12a3)基因，是胱氨酸尿表型特征之一。 在构成人类基因组所有蛋白质中约27%的膜蛋白中，溶质载体（SLC）家族是人类中第二大膜蛋白家族，由分为52个家族的超过400种分类的蛋白质组成。

2024年11月3日 · Study shows that various computational tools were able to distinguish cystinuria-causing mutations from benign polymorphisms. Four deleterious mutation (R362C, T216M, M467K/T) in the coding region of SLC3A1 were identified. The intron variant c.1136+2/3delT in SLC3A1 gene probably affected the splicing process.

2017年2月26日 · Here, we report that the expression level of the solute carrier family 3, member 1 (SLC3A1), the cysteine carrier, tightly correlated with clinical stages and patients' survival. Elevated SLC3A1 expression accelerated the cysteine uptake and the accumulation of reductive glutathione (GSH), leading to reduced reactive oxygen species (ROS).

Clinical resource with information about SLC3A1, Cystinuria, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.