储存： -15°C to -25°C/1 year(Do not lower than -25°C)
克隆号： PT1120R
特异性： Endogenous
基因名称： TMEM43,UNQ2564/PRO6244
蛋白名称： Transmembrane protein 43 (Protein LUMA)
Organism-1： Human
基因ID-1： 79188
SwissProt-1： Q9BTV4
Organism-2： Mouse
基因ID-2： 74122
SwissProt-2： Q9DBS1
Organism-3： Rat
基因ID-3： 362401
SwissProt-3： Q5XIP9
背景： 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}.
储存： -15°C to -25°C/1 year(Do not lower than -25°C)
克隆号： PT1120R
特异性： Endogenous
基因名称： TMEM43,UNQ2564/PRO6244
蛋白名称： Transmembrane protein 43 (Protein LUMA)
Organism-1： Human
基因ID-1： 79188
SwissProt-1： Q9BTV4
Organism-2： Mouse
基因ID-2： 74122
SwissProt-2： Q9DBS1
Organism-3： Rat
基因ID-3： 362401
SwissProt-3： Q5XIP9
背景： 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}.
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