SPINK5 Human Recombinant Protein

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]

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; Inhibitor; Secreted, signal peptide

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; epidermal cell differentiation; hair cell differentiation; regulation of T cell differentiation; anagen

Disease: Ige Responsiveness, Atopic; Netherton Syndrome