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TGBA01AD is a gene that is associated with the production of a protein known as transglutaminase 1. This protein plays a crucial role in the formation of the skin's outermost layer, the epidermis. Mutations in the TGBA01AD gene can lead to a variety of skin disorders, including ichthyosis, a condition characterized by dry, scaly skin.

Function

The TGBA01AD gene provides instructions for making a protein called transglutaminase 1. This protein is found in the keratinocytes, which are the primary type of cell found in the skin. Transglutaminase 1 helps these cells form a barrier on the surface of the skin that protects the body from infection and dehydration.

Associated Disorders

Mutations in the TGBA01AD gene can lead to several skin disorders. One of the most common is ichthyosis, a condition that causes the skin to become dry and scaly. This is due to a disruption in the normal process of skin cell turnover, where old cells are shed and replaced by new ones. Other disorders associated with mutations in the TGBA01AD gene include lamellar ichthyosis and congenital ichthyosiform erythroderma.

Genetic Changes

More than 100 mutations in the TGBA01AD gene have been identified in people with ichthyosis and related skin disorders. These mutations disrupt the normal function of transglutaminase 1, preventing the skin from forming a proper barrier. This leads to the characteristic dry, scaly skin seen in these conditions.

Inheritance

The disorders associated with the TGBA01AD gene are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

See Also

• Ichthyosis
• Transglutaminase
• Keratinocyte
• Autosomal recessive

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