Acral skin peeling syndrome (Q83638)
From determinar.ia.br - Determine suas informações
Acral peeling skin syndrome is caused by mutations in the TGM5 gene, the product of which is transglutaminase 5, an enzyme which plays a critical role in the formation of the cornified cell envelope which surrounds keratinocytes in the upper epidermis and is vital to epidermal integrity. Skin peeling is usually evident from birth and is most noticeable on the hands and feet.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1869724137 |
||
| English | Acral skin peeling syndrome |
Acral peeling skin syndrome is caused by mutations in the TGM5 gene, the product of which is transglutaminase 5, an enzyme which plays a critical role in the formation of the cornified cell envelope which surrounds keratinocytes in the upper epidermis and is vital to epidermal integrity. Skin peeling is usually evident from birth and is most noticeable on the hands and feet. |
