| 别名 | Transmembrane protein 43 (Protein LUMA)、LUMA、UNQ2564、PRO6244 |
| 基因名称 | TMEM43 |
| 蛋白名称 | Transmembrane protein 43 (Protein LUMA) |
| 推荐应用 | |
| 反应物种 | Human,Mouse,Rat |
| 存储缓冲液 | PBS, 50% glycerol, 0.05% Proclin 300, 0.05%BSA |
| Human Gene Link | 79188 |
| Human Swissprot No. | Q9BTV4 |
| Mouse Gene ID | 74122 |
| Mouse Swissprot No. | Q9DBS1 |
| Rat Gene ID | 362401 |
| Rat Swissprot No. | Q5XIP9 |
| 特异性 | endogenous |
| 稀释度 | WB 1:1000-1:2500; |
| 参考分子量 | MW(Observed):44kDa |
| 预测分子量 | MW(Calculated):44kDa |
| 运输及保存条件 | -15°C to -25°C/1 year(Do not lower than -25°C) |
| 宿主 | Rabbit |
| 同种型 | IgG,Kappa |
| 背景介绍 | This gene belongs to the TMEM43 family. Defects in this gene are the cause of familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5), also known as arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5). Arrhythmogenic right ventricular dysplasia is an inherited disorder, often involving both ventricles, and is characterized by ventricular tachycardia, heart failure, sudden cardiac death, and fibrofatty replacement of cardiomyocytes. This gene contains a response element for PPAR gamma (an adipogenic transcription factor), which may explain the fibrofatty replacement of the myocardium, a characteristic pathological finding in ARVC. [provided by RefSeq, Oct 2008] |
| 细胞定位 | SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:32614325}. Nucleus inner membrane; Multi-pass membrane protein. Cell membrane {ECO:0000269|PubMed:34050020}. Note=Retained in the inner nuclear membrane through interaction with EMD and A- and B-lamins. The N- and C-termini are oriented towards the nucleoplasm. The majority of the hydrophilic domain resides in the endoplasmic reticulum lumen (By similarity). {ECO:0000250}. |
| 功能 | FUNCTION: May have an important role in maintaining nuclear envelope structure by organizing protein complexes at the inner nuclear membrane. Required for retaining emerin at the inner nuclear membrane (By similarity). Plays a role in the modulation of innate immune signaling through the cGAS-STING pathway by interacting with RNF26 (PubMed:32614325). In addition, functions as a critical signaling component in mediating NF-kappa-B activation by acting downstream of EGFR and upstream of CARD10 (PubMed:27991920). Contributes to passive conductance current in cochlear glia-like supporting cells, mediated by gap junctions and necessary for hearing and speech discrimination (PubMed:34050020). {ECO:0000250|UniProtKB:Q9DBS1, ECO:0000269|PubMed:27991920, ECO:0000269|PubMed:32614325, ECO:0000269|PubMed:34050020}. |
| 纯化 | Protein A |
| Clonality | Monoclonal |
| 修饰类型 | Unmodified |
| 细胞定位 | SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:32614325}. Nucleus inner membrane; Multi-pass membrane protein. Cell membrane {ECO:0000269|PubMed:34050020}. Note=Retained in the inner nuclear membrane through interaction with EMD and A- and B-lamins. The N- and C-termini are oriented towards the nucleoplasm. The majority of the hydrophilic domain resides in the endoplasmic reticulum lumen (By similarity). {ECO:0000250}. |
| 组织表达 | TISSUE SPECIFICITY: Highest expression in placenta. Also found at lower levels in heart, ovary, spleen, small intestine, thymus, prostate and testis. {ECO:0000269|PubMed:18230648}. |
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