Entrez gene ID | | 11005 |
Official gene symbol | | SPINK5 |
Full name | | serine peptidase inhibitor, Kazal type 5 |
Aliases | | ,DKFZp686K19184,FLJ21544,FLJ97536,FLJ97596,FLJ99794,LEKTI,LETKI,NETS,NS,VAKTI, |
Gene summary | | 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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] |
Location | | Chromosome: 5 Locus: 5q32 |
Gene position | | 147443535 - 147516925 Map Viewer |
Gene orientation | | plus |
Gene size | | 73391 bp |
Gene sequence |
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OMIM ID | | 605010 |
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