ATP2C1 Gene - GeneCards | AT2C1 Protein | AT2C1 Antibody
2025年3月30日 · ATP2C1 (ATPase Secretory Pathway Ca2+ Transporting 1) is a Protein Coding gene. Diseases associated with ATP2C1 include Hailey-Hailey Disease and Epidermolysis …
ATP2C1 - Wikipedia
Calcium-transporting ATPase type 2C member 1 is an enzyme that in humans is encoded by the ATP2C1 gene. [5][6][7] This gene encodes one of the SPCA proteins, a Ca 2+ ion-transporting …
Cell Res | 南方科技大学/浙江大学揭示人源钙泵SPCA1的结构及转 …
哺乳动物SPCA家族由至少两个亚型SPCA1和SPCA2组成，分别由ATP2C1和ATP2C2基因编码。 SPCA1比SPCA2更早被鉴定为Ca2+泵，因此，其生理功能和特性得到了更好的理解。
ATP2C1 ATPase secretory pathway Ca2+ transporting 1 [ (human)]
2025年2月8日 · ATP2C1 (PMR1) plays an important role, which is at least partially nonoverlapping with that of sarco (endo-)plasmic reticulum Ca (2+)-ATPases, in the control of …
ATP2C1 gene mutations in Hailey–Hailey disease and possible roles …
2016年6月9日 · Mutations on the human ATP2C1 gene, causing decreased levels of the SPCA1 expression, have been identified as the cause of the Hailey–Hailey disease, a rare skin …
ATPase 分泌途径 Ca2+ 转运 1（ATP2C1）基因 | MCE
该基因编码的蛋白质属于 P 型阳离子转运 ATP 酶家族。 这种镁依赖性酶催化 ATP 的水解以及钙离子的运输。 该基因的缺陷会导致 Hailey-Hailey 病，这是一种常染色体显性遗传病。 已经鉴 …
ATP2C1 gene: MedlinePlus Genetics
The ATP2C1 gene provides instructions for making a protein called hSPCA1. This protein is an adenosine triphosphate (ATP)-powered calcium pump, which uses energy from ATP …
The loss of ATP2C1 impairs the DNA damage response and …
2016年8月16日 · ATP2C1 mutations have been identified as having a causative role in Hailey-Hailey disease, an autosomal-dominant skin disorder. Here, we identified ATP2C1 as a crucial …
ATP2C1 ATPase secretory pathway Ca2+ transporting 1 [Homo …
2024年10月28日 · Title: Two patients with Hailey-Hailey disease with novel pathogenic ATP2C1 variants suggesting possible genotype/phenotype correlations.
ATP2C1人源基因|ATP2C1基因突变_致病性_靶点-RDDC官网
这个基因编码的蛋白质属于P型阳离子转运ATP酶家族。 这个镁离子依赖的酶催化ATP的水解，同时伴随钙离子的运输。 这个基因的缺陷导致Hailey-Hailey病，这是一种常染色体显性障碍。 …