Might function as an inhibitor of Lys-specific proteases. Might influence the maturation of megakaryocytes via its action as a serpin.
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.
Belongs to the serpin family. Ov-serpin subfamily.
Predominantly expressed in mesangial cells. Expressed in the epidermis of the whole body.
Serpin B7, Megsin, TP55, SERPINB7
Proteins
Oncology
42905Da
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