Serpin B7
Function
Might function as an inhibitor of Lys-specific proteases. Might influence the maturation of megakaryocytes via its action as a serpin.
Involvement in disease
Keratoderma, palmoplantar, Nagashima type
PPKN
An autosomal recessive, non-syndromic, diffuse palmoplantar keratosis characterized by well-demarcated diffuse erythematous hyperkeratosis expanding onto the dorsal surfaces of the palms and feet and the Achilles tendon area. Hyperkeratosis is mild and non-progressive.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the serpin family. Ov-serpin subfamily.
Tissue Specificity
Predominantly expressed in mesangial cells. Expressed in the epidermis of the whole body.
Cellular localization
- Cytoplasm
Alternative names
Serpin B7, Megsin, TP55, SERPINB7