SPINK5

Serine peptidase inhibitor, Kazal type 5, also known as SPINK5, is a human gene.cite web | title = Entrez Gene: SPINK5 serine peptidase inhibitor, Kazal type 5| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=11005| accessdate = ]

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: SPINK5 serine peptidase inhibitor, Kazal type 5| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=11005| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Norgett EE, Kelsell DP |title=SPINK5: both rare and common skin disease. |journal=Trends in molecular medicine |volume=8 |issue= 1 |pages= 7 |year= 2002 |pmid= 11796258 |doi=
*cite journal | author=Mägert HJ, Kreutzmann P, Ständker L, "et al." |title=LEKTI: a multidomain serine proteinase inhibitor with pathophysiological relevance. |journal=Int. J. Biochem. Cell Biol. |volume=34 |issue= 6 |pages= 573–6 |year= 2002 |pmid= 11943586 |doi=
*cite journal | author=Walden M, Kreutzmann P, Drögemüller K, "et al." |title=Biochemical features, molecular biology and clinical relevance of the human 15-domain serine proteinase inhibitor LEKTI. |journal=Biol. Chem. |volume=383 |issue= 7-8 |pages= 1139–41 |year= 2003 |pmid= 12437098 |doi=
*cite journal | author=Mägert HJ, Ständker L, Kreutzmann P, "et al." |title=LEKTI, a novel 15-domain type of human serine proteinase inhibitor. |journal=J. Biol. Chem. |volume=274 |issue= 31 |pages= 21499–502 |year= 1999 |pmid= 10419450 |doi=
*cite journal | author=Chavanas S, Garner C, Bodemer C, "et al." |title=Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping. |journal=Am. J. Hum. Genet. |volume=66 |issue= 3 |pages= 914–21 |year= 2000 |pmid= 10712206 |doi=
*cite journal | author=Chavanas S, Bodemer C, Rochat A, "et al." |title=Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. |journal=Nat. Genet. |volume=25 |issue= 2 |pages= 141–2 |year= 2000 |pmid= 10835624 |doi= 10.1038/75977
*cite journal | author=Sprecher E, Chavanas S, DiGiovanna JJ, "et al." |title=The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis. |journal=J. Invest. Dermatol. |volume=117 |issue= 2 |pages= 179–87 |year= 2001 |pmid= 11511292 |doi= 10.1046/j.1523-1747.2001.01389.x
*cite journal | author=Walley AJ, Chavanas S, Moffatt MF, "et al." |title=Gene polymorphism in Netherton and common atopic disease. |journal=Nat. Genet. |volume=29 |issue= 2 |pages= 175–8 |year= 2001 |pmid= 11544479 |doi= 10.1038/ng728
*cite journal | author=Ahmed A, Kandola P, Ziada G, Parenteau N |title=Purification and partial amino acid sequence of proteins from human epidermal keratinocyte conditioned medium. |journal=J. Protein Chem. |volume=20 |issue= 4 |pages= 273–8 |year= 2002 |pmid= 11594460 |doi=
*cite journal | author=Bitoun E, Chavanas S, Irvine AD, "et al." |title=Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families. |journal=J. Invest. Dermatol. |volume=118 |issue= 2 |pages= 352–61 |year= 2002 |pmid= 11841556 |doi= 10.1046/j.1523-1747.2002.01603.x
*cite journal | author=Komatsu N, Takata M, Otsuki N, "et al." |title=Elevated stratum corneum hydrolytic activity in Netherton syndrome suggests an inhibitory regulation of desquamation by SPINK5-derived peptides. |journal=J. Invest. Dermatol. |volume=118 |issue= 3 |pages= 436–43 |year= 2002 |pmid= 11874482 |doi= 10.1046/j.0022-202x.2001.01663.x
*cite journal | author=Bitoun E, Micheloni A, Lamant L, "et al." |title=LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome. |journal=Hum. Mol. Genet. |volume=12 |issue= 19 |pages= 2417–30 |year= 2004 |pmid= 12915442 |doi= 10.1093/hmg/ddg247
*cite journal | author=Nishio Y, Noguchi E, Shibasaki M, "et al." |title=Association between polymorphisms in the SPINK5 gene and atopic dermatitis in the Japanese. |journal=Genes Immun. |volume=4 |issue= 7 |pages= 515–7 |year= 2004 |pmid= 14551605 |doi= 10.1038/sj.gene.6363889
*cite journal | author=Raghunath M, Tontsidou L, Oji V, "et al." |title=SPINK5 and Netherton syndrome: novel mutations, demonstration of missing LEKTI, and differential expression of transglutaminases. |journal=J. Invest. Dermatol. |volume=123 |issue= 3 |pages= 474–83 |year= 2004 |pmid= 15304086 |doi= 10.1111/j.0022-202X.2004.23220.x
*cite journal | author=Tidow H, Lauber T, Vitzithum K, "et al." |title=The solution structure of a chimeric LEKTI domain reveals a chameleon sequence. |journal=Biochemistry |volume=43 |issue= 35 |pages= 11238–47 |year= 2004 |pmid= 15366933 |doi= 10.1021/bi0492399
*cite journal | author=Yang T, Liang D, Koch PJ, "et al." |title=Epidermal detachment, desmosomal dissociation, and destabilization of corneodesmosin in Spink5-/- mice. |journal=Genes Dev. |volume=18 |issue= 19 |pages= 2354–8 |year= 2004 |pmid= 15466487 |doi= 10.1101/gad.1232104
*cite journal | author=Ishida-Yamamoto A, Deraison C, Bonnart C, "et al." |title=LEKTI is localized in lamellar granules, separated from KLK5 and KLK7, and is secreted in the extracellular spaces of the superficial stratum granulosum. |journal=J. Invest. Dermatol. |volume=124 |issue= 2 |pages= 360–6 |year= 2005 |pmid= 15675955 |doi= 10.1111/j.0022-202X.2004.23583.x

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