Recombinant Human Transmembrane protein 43 (TMEM43), Truncated

Uniprot Id

Q9BTV4

Target Species

Human

Target Name

TMEM43

Target Full Name

Transmembrane protein 43

Target 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.

Target Involvement

Arrhythmogenic right ventricular dysplasia, familial, 5 (ARVD5); Emery-Dreifuss muscular dystrophy 7, autosomal dominant (EDMD7)

Target Subcellular Location

Endoplasmic reticulum. Nucleus inner membrane; Multi-pass membrane protein.

Target Protein Families

TMEM43 family

Target Tissue Specificity

Highest expression in placenta. Also found at lower levels in heart, ovary, spleen, small intestine, thymus, prostate and testis.

Target Synonyms

TMEM43; UNQ2564/PRO6244; Transmembrane protein 43; Protein LUMA

Target 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.