serpin family B member 8

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

From NCBI Gene:

The protein encoded by this gene is a member of the ov-serpin family of serine protease inhibitors. The encoded protein is produced by platelets and can bind to and inhibit the function of furin, a serine protease involved in platelet functions. In addition, this protein has been found to enhance the mechanical stability of cell-cell adhesion in the skin, and defects in this gene have been associated with an autosomal-recessive form of exfoliative ichthyosis. [provided by RefSeq, Jan 2017]

From UniProt:

Has an important role in epithelial desmosome-mediated cell-cell adhesion.

From NCBI Gene:

  • Peeling skin syndrome 5

From UniProt:

Peeling skin syndrome 5 (PSS5): A form of peeling skin syndrome, a genodermatosis characterized by generalized, continuous shedding of the outer layers of the epidermis. Two main PSS subtypes have been suggested. Patients with non-inflammatory PSS (type A) manifest white scaling, with painless and easy removal of the skin, irritation when in contact with water, dust and sand, and no history of erythema, pruritis or atopy. Inflammatory PSS (type B) is associated with generalized erythema, pruritus and atopy. It is an ichthyosiform erythroderma characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly after. Several patients have been reported with high IgE levels. PSS5 patients manifest hyperkeratosis and superficial peeling of areas of the palmar and dorsal faces of hands and feet. Additional variable features include erythema, superficial scaling of forearms and legs and diffuse yellowish hyperkeratotic palmoplantar plaques. PSS5 inheritance is autosomal recessive. [MIM:617115]

Cytogenetic Location: 18q22.1, which is the long (q) arm of chromosome 18 at position 22.1

Molecular Location: base pairs 63,970,028 to 64,019,779 on chromosome 18 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 18q22.1, which is the long (q) arm of chromosome 18 at position 22.1
  • C18orf53
  • CAP2
  • HMSD
  • HSMD-v
  • PI-8
  • PI8
  • PSS5