SCEL (gene)

SCEL, also known as sciellin, is a human gene that encodes a cornified envelope precursor protein. The cornified envelope (CE) is a highly insoluble protein structure formed beneath the plasma membrane of differentiating epidermal cells and is essential for skin barrier function.

Function:

The protein encoded by the SCEL gene is a major component of the cornified envelope. Sciellin is thought to be involved in cross-linking other CE proteins, contributing to the structural integrity and barrier properties of the cornified envelope. It is extensively cross-linked to other CE components via transglutaminase-mediated reactions.

Expression:

The SCEL gene is predominantly expressed in differentiating keratinocytes in the epidermis, particularly in the granular layer where CE formation takes place. Expression is upregulated during keratinocyte differentiation.

Clinical Significance:

Mutations in the SCEL gene have been implicated in certain skin disorders characterized by impaired cornification. Altered SCEL expression or protein function can disrupt CE formation, leading to compromised skin barrier function and increased susceptibility to environmental stressors. While not a primary cause of many common skin diseases, variations in SCEL may contribute to disease susceptibility or severity. Further research is ongoing to fully elucidate the role of SCEL in skin health and disease.

Further Reading:

• Online Mendelian Inheritance in Man (OMIM): Entry for SCEL gene
• Relevant scientific publications related to cornified envelope formation and skin barrier function.