This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The encoded preproprotein is proteolytically processed to generate multiple protein products, which may exhibit unique activities and specificities. These proteins may play a role in skin and hair morphogenesis, as well as anti-inflammatory and antimicrobial protection of mucous epithelia. Mutations in this gene may result in Netherton syndrome, a disorder characterized by ichthyosis, defective cornification, and atopy. This gene is present in a gene cluster on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
SKU | Test Kits | Buffer | Dye Color | Order Now |
---|---|---|---|---|
SPINK5-20-RE | 20 (40 μL) | 200 μL | Request Pricing | |
SPINK5-20-OR | 20 (40 μL) | 200 μL | Request Pricing | |
SPINK5-20-GO | 20 (40 μL) | 200 μL | Request Pricing | |
SPINK5-20-GR | 20 (40 μL) | 200 μL | Request Pricing | |
SPINK5-20-AQ | 20 (40 μL) | 200 μL | Request Pricing |
This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The encoded preproprotein is proteolytically processed to generate multiple protein products, which may exhibit unique activities and specificities. These proteins may play a role in skin and hair morphogenesis, as well as anti-inflammatory and antimicrobial protection of mucous epithelia. Mutations in this gene may result in Netherton syndrome, a disorder characterized by ichthyosis, defective cornification, and atopy. This gene is present in a gene cluster on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
Gene Symbol : SPINK5
Gene Name : Serine peptidase inhibitor, Kazal type 5
Chromosome : CHR 5: 148,063,971-148,137,361
Locus : 5q32
Alt. Genes : RASA4
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