NP_001121170.1
[Other Products]
NCBI GenBank Nucleotide #
|
[Other Products]
UniProt Primary Accession #
|
[Other Products]
UniProt Secondary Accession #
Molecular Weight
120,714 Da
NCBI Official Full Name
serine protease inhibitor Kazal-type 5 isoform a
UniProt Protein Name
Serine protease inhibitor Kazal-type 5
UniProt Synonym Protein Names
Lympho-epithelial Kazal-type-related inhibitor; LEKTI
UniProt Synonym Gene Names
UniProt Entry Name
ISK5_HUMAN
NCBI Summary for SPINK5
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, Jul 2008]
UniProt Comments for SPINK5
SPINK5: Serine protease inhibitor, probably important for the anti-inflammatory and/or antimicrobial protection of mucous epithelia. Contribute to the integrity and protective barrier function of the skin by regulating the activity of defense- activating and desquamation-involved proteases. Inhibits KLK5, it's major target, in a pH-dependent manner. Inhibits KLK7, KLK14 CASP14, and trypsin. Defects in SPINK5 are the cause of Netherton syndrome (NETH). NETH is an autosomal recessive congenital ichthyosis associated with hair shaft abnormalities and anomalies of the immune system. Typical features are ichthyosis linearis circumflexa, ichthyosiform erythroderma, trichorrhexis invaginata (bamboo hair), atopic dermatitis, and hayfever. High postnatal mortality is due to failure to thrive, infections and hypernatremic dehydration. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: Secreted, signal peptide; Secreted; Inhibitor
Chromosomal Location of Human Ortholog: 5q32
Cellular Component: endoplasmic reticulum membrane; endoplasmic reticulum; perinuclear region of cytoplasm; cytoplasm; extracellular region; cell cortex; cytosol
Molecular Function: serine-type endopeptidase inhibitor activity
Biological Process: extracellular matrix organization and biogenesis; negative regulation of angiogenesis; epithelial cell differentiation; negative regulation of immune response; hair cell differentiation; epidermal cell differentiation; regulation of T cell differentiation; anagen
Disease: Ige Responsiveness, Atopic; Netherton Syndrome
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Diseases associated with SPINK5 elisa kit
Organs/Tissues associated with SPINK5 elisa kit
|