Cell Biology Antibodies 12
Anti-TMEM43 Antibody (CAB8509)
- SKU:
- CAB8509
- Product Type:
- Antibody
- Applications:
- WB
- Applications:
- IHC
- Reactivity:
- Human
- Reactivity:
- Mouse
- Host Species:
- Rabbit
- Isotype:
- IgG
- Research Area:
- Cell Biology
Description
Antibody Name: | Anti-TMEM43 Antibody |
Antibody SKU: | CAB8509 |
Antibody Size: | 20uL, 50uL, 100uL |
Application: | WB IHC |
Reactivity: | Human, Mouse |
Host Species: | Rabbit |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 80-310 of human TMEM43 (NP_077310.1). |
Application: | WB IHC |
Recommended Dilution: | WB 1:500 - 1:2000 IHC 1:50 - 1:100 |
Reactivity: | Human, Mouse |
Positive Samples: | SKOV3, SW620, MCF7, Mouse kidney |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 80-310 of human TMEM43 (NP_077310.1). |
Purification Method: | Affinity purification |
Storage Buffer: | Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
Isotype: | IgG |
Sequence: | VAPE NEGR LVHI IGAL RTSK LLSD PNYG VHLP AVKL RRHV EMYQ WVET EESR EYTE DGQV KKET RYSY NTEW RSEI INSK NFDR EIGH KNPS AMAV ESFM ATAP FVQI GRFF LSSG LIDK VDNF KSLS LSKL EDPH VDII RRGD FFYH SENP KYPE VGDL RVSF SYAG LSGD DPDL GPAH VVTV IARQ RGDQ LVPF STKS GDTL LLLH HGDF SAEE VFHR ELRS NSMK TWG |
Gene ID: | 79188 |
Uniprot: | Q9BTV4 |
Cellular Location: | Endoplasmic reticulum, Multi-pass membrane protein, Nucleus inner membrane |
Calculated MW: | 44kDa |
Observed MW: | 45kDa |
Synonyms: | TMEM43, ARVC5, ARVD5, EDMD7, LUMA |
Background: | 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. |
UniProt Protein Function: | TMEM43: 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. Defects in TMEM43 are the cause of familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5); also known as arrhythmogenic right ventricular cardiomyopathy (ARVC5). ARVD is an autosomal dominant disease characterized by partial degeneration of the myocardium of the right ventricle, electrical instability, and sudden death. It is clinically defined by electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular free wall. Belongs to the TMEM43 family. |
UniProt Protein Details: | Protein type:Membrane protein, multi-pass; Membrane protein, integral Chromosomal Location of Human Ortholog: 3p25.1 Cellular Component: Golgi apparatus Molecular Function:protein binding Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 5; Emery-dreifuss Muscular Dystrophy 7, Autosomal Dominant |
NCBI Summary: | 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] |
UniProt Code: | Q9BTV4 |
NCBI GenInfo Identifier: | 74733151 |
NCBI Gene ID: | 79188 |
NCBI Accession: | Q9BTV4.1 |
UniProt Secondary Accession: | Q9BTV4,Q7L4N5, Q8NC30, Q96A63, Q96F19, Q96JX0, Q9H076 |
UniProt Related Accession: | Q9BTV4 |
Molecular Weight: | 44,876 Da |
NCBI Full Name: | Transmembrane protein 43 |
NCBI Synonym Full Names: | transmembrane protein 43 |
NCBI Official Symbol: | TMEM43 |
NCBI Official Synonym Symbols: | LUMA; ARVC5; ARVD5; EDMD7 |
NCBI Protein Information: | transmembrane protein 43 |
UniProt Protein Name: | Transmembrane protein 43 |
UniProt Synonym Protein Names: | Protein LUMA |
Protein Family: | Transmembrane protein |
UniProt Gene Name: | TMEM43 |
UniProt Entry Name: | TMM43_HUMAN |
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