人 KDSR 抗体对
01AB02744
3-ketodihydrosphingosine reductase (KDSR) is an endoplasmic reticulum membrane oxidoreductase that catalyzes the reduction of 3-ketodihydrosphingosine to dihydrosphingosine, representing the second committed step in de novo sphingolipid and ceramide biosynthesis. The enzyme is essential for maintaining ER lipid composition and unfolded protein response (UPR) homeostasis; its loss leads to ER stress and apoptosis. Clinically, biallelic loss-of-function mutations in KDSR cause a syndromic phenotype characterized by thrombocytopenia and progressive keratinization disorders, such as erythrokeratodermia variabilis et progressiva (EKVP4). Additionally, chromosomal rearrangements involving the KDSR gene are recurrent in follicular lymphoma and type II chronic lymphatic leukemia, while altered expression is implicated in T-cell malignancies and hepatic injury. These associations underscore the critical role of KDSR in both systemic lipid metabolism and oncogenesis.
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技术参数
- 靶点基因名
- KDSR
- 基因别名
- FVT1; SDR35C1
- 蛋白别名
- 3-ketodihydrosphingosine reductase; KDSR
- UniProt
- Q06136
- 物种
- Human
产品详情
- 靶点名称
- KDSR
- 蛋白名称
- 3-ketodihydrosphingosine reductase
- 蛋白别名
- 3-ketodihydrosphingosine reductase; KDS reductase; 3-dehydrosphinganine reductase; Follicular variant translocation protein 1; FVT-1; Short chain dehydrogenase/reductase family 35C member 1
- 靶点基因名
- KDSR
- 基因别名
- FVT1; SDR35C1
- UniProt
- Q06136
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
3-ketodihydrosphingosine reductase (KDSR) is an endoplasmic reticulum membrane oxidoreductase that catalyzes the reduction of 3-ketodihydrosphingosine to dihydrosphingosine, representing the second committed step in de novo sphingolipid and ceramide biosynthesis. The enzyme is essential for maintaining ER lipid composition and unfolded protein response (UPR) homeostasis; its loss leads to ER stress and apoptosis. Clinically, biallelic loss-of-function mutations in KDSR cause a syndromic phenotype characterized by thrombocytopenia and progressive keratinization disorders, such as erythrokeratodermia variabilis et progressiva (EKVP4). Additionally, chromosomal rearrangements involving the KDSR gene are recurrent in follicular lymphoma and type II chronic lymphatic leukemia, while altered expression is implicated in T-cell malignancies and hepatic injury. These associations underscore the critical role of KDSR in both systemic lipid metabolism and oncogenesis.