TMEM43 blocking peptide

TMEM43 Antibody (Center) Blocking peptide

• Gene Names: TMEM43; LUMA; ARVC5; ARVD5; EDMD7
• Synonyms: TMEM43; TMEM43 Antibody (Center) Blocking peptide; Transmembrane protein 43; Protein LUMA; TMEM43 blocking peptide

• Form/Format: Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.
• Sequence Length: 400

• Cellular Location: Endoplasmic reticulum. Nucleus inner membrane; Multi-pass membrane protein. 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).
• Tissue Location: Highest expression in placenta. Also found at lower levels in heart, ovary, spleen, small intestine, thymus, prostate and testis.
• Preparation and Storage: Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C.

Related Product Information for TMEM43 blocking peptide

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).

NCBI and Uniprot Product Information

• NCBI GI #: 74733151
• NCBI GeneID: 79188
• UniProt Accession #: Q9BTV4; Q7L4N5; Q8NC30; Q96A63; Q96F19; Q96JX0; Q9H076
• Molecular Weight: 44,876 Da
• NCBI Official Full Name: Transmembrane protein 43
• NCBI Official 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
• Protein Family: Transmembrane protein
• UniProt Gene Name: TMEM43
• UniProt Entry Name: TMM43_HUMAN

NCBI Description

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 Description

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.

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