SPINK5

(Serine Peptidase Inhibitor, Kazal type 5)

 

  • Alias                                 (According to NCBI)

 

  
  • FLJ21544,
  • LEKTI,
  • LETKI,
  • NETS,
  • NS,
  • VAKTI
  • lymphoepithelial Kazal-type-related inhibitor;
  • serine protease inhibitor,
  • Kazal type 5

 
  • This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The inhibitor may play a role in skin and hair morphogenesis and anti-inflammatory and/or antimicrobial protection of mucous epithelia. Mutations may result in Netherton syndrome, a disorder characterized by ichthyosis, defective cornification, and atopy.
  • Location: 5q32
  • Size: 73362 bp
  • exons: 30
  • DNA sequence (Human): NC_000005.8

  • CGH (5q32):  Losses (%) -11.7   Gain (%)  3.4  

  • Mutations and SNPs (According to HGMD and SNP)

 

 
  • m-RNA                       (According to NCBI and CGAP)

 
  • Size: 1064 amino acids; 120770 Da
  • Catalytic activity:

  • Subcellular location:

  • Protein domains

     

  • Pathways and interactions (According to IntAct)

 

  • Pathway:

                        

  • Protein interactions: SPINK5
  • Clinical                            (According to OMIM, PubMed)