Gene TMEM79
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Also known as
Transmembrane Protein 79, MATTRIN, MattOverview
TMEM79 (Transmembrane Protein 79), also known as MATTRIN (Matted Trichohyalin-like Protein), encodes a multi-pass transmembrane protein that plays a crucial role in epidermal differentiation and skin barrier formation. The protein is expressed in the upper layers of the epidermis and functions in the proper processing and localization of lamellar granules, specialized organelles that secrete lipids essential for the skin's permeability barrier. TMEM79 is involved in regulating the activity of transglutaminases and the organization of cornified envelope proteins, contributing to the structural integrity of the outermost skin layer. The gene is part of a complex regulatory network that maintains skin homeostasis and protects against environmental insults.Mutations in TMEM79 cause autosomal recessive congenital ichthyosis (ARCI), a heterogeneous group of disorders characterized by abnormal skin scaling and barrier dysfunction. Patients with TMEM79 mutations typically present with lamellar ichthyosis or congenital ichthyosiform erythroderma, featuring generalized scaling, erythroderma, and impaired barrier function leading to increased transepidermal water loss. Beyond monogenic disease, genetic variants in TMEM79 have been associated with susceptibility to atopic dermatitis and may influence individual variation in skin barrier properties, sensitivity to irritants, and response to moisturizing treatments. Understanding TMEM79 genetics can inform personalized skincare approaches, particularly for individuals with compromised skin barrier function or inflammatory skin conditions.