SERPINB7 gene

serpin family B member 7

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a member of a family of proteins which function as protease inhibitors. Expression of this gene is upregulated in IgA nephropathy and mutations have been found to cause palmoplantar keratoderma, Nagashima type. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

From UniProt:

Might function as an inhibitor of Lys-specific proteases. Might influence the maturation of megakaryocytes via its action as a serpin.

From NCBI Gene:

  • Palmoplantar keratoderma, nagashima type

From UniProt:

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. [MIM:615598]

Cytogenetic Location: 18q21.33, which is the long (q) arm of chromosome 18 at position 21.33

Molecular Location: base pairs 63,753,047 to 63,805,376 on chromosome 18 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 18q21.33, which is the long (q) arm of chromosome 18 at position 21.33
  • MEGSIN
  • PPKN
  • TP55