Serine Peptidase Inhibitor Kazal Type 5 (SPINK5) Antibody – Rabbit Polyclonal

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]

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: Inhibitor; Secreted; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 5q32

Cellular Component: cell cortex; cytoplasm; cytosol; endoplasmic reticulum; endoplasmic reticulum membrane; extracellular exosome; extracellular region; intracellular membrane-bound organelle; perinuclear region of cytoplasm

Molecular Function: serine-type endopeptidase inhibitor activity

Biological Process: anagen; cornification; epidermal cell differentiation; epithelial cell differentiation; extracellular matrix organization; hair cell differentiation; negative regulation of angiogenesis; negative regulation of antibacterial peptide production; negative regulation of immune response; negative regulation of serine-type endopeptidase activity; regulation of T cell differentiation

Disease: Ige Responsiveness, Atopic; Netherton Syndrome