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Protein Coding Gene : Spink5 serine peptidase inhibitor, Kazal type 5
Primary Identifier  MGI:1919682 Organism  mouse, laboratory
Chromosome  18 NCBI Gene Number  72432
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Enables peptidase inhibitor activity. Involved in negative regulation of antibacterial peptide production. Acts upstream of or within negative regulation of proteolysis and regulation of cell adhesion. Predicted to be located in several cellular components, including endoplasmic reticulum membrane; epidermal lamellar body; and perinuclear region of cytoplasm. Predicted to be active in extracellular region. Is expressed in back skin. Used to study Netherton syndrome. Human ortholog(s) of this gene implicated in Netherton syndrome. Orthologous to human SPINK5 (serine peptidase inhibitor Kazal type 5).
PHENOTYPE: Homozygous mutant mice display neonatal lethality, exfoliative erythroderma, and severe dehydration. [provided by MGI curators]
  • synonyms:
  • serine peptidase inhibitor, Kazal type 5,
  • LEKT1,
  • Spink5,
  • RIKEN cDNA 2310065D10 gene,
  • 2310065D10Rik,
  • MGI:2147337,
  • expressed sequence AV238912,
  • AV238912
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